Novelties in Autoimmune and Paraneoplastic Cerebellar Ataxias: Twenty Years of Progresses.
CASPR2 antibodies
Cerebellar ataxia
GAD65 antibodies
Paraneoplastic neurological syndromes
Yo antibodies
mGluR1 antibodies
Journal
Cerebellum (London, England)
ISSN: 1473-4230
Titre abrégé: Cerebellum
Pays: United States
ID NLM: 101089443
Informations de publication
Date de publication:
Aug 2022
Aug 2022
Historique:
accepted:
23
12
2021
pubmed:
13
1
2022
medline:
29
7
2022
entrez:
12
1
2022
Statut:
ppublish
Résumé
Major advances in our knowledge concerning autoimmune and paraneoplastic cerebellar ataxias have occurred in the last 20 years. The discovery of several neural antibodies represents an undeniable contribution to this field, especially those serving as good biomarkers of paraneoplastic neurological syndromes and those showing direct pathogenic effects. Yet, many patients still lack detectable or known antibodies, and also many antibodies have only been reported in few patients, which makes it difficult to define in detail their clinical value. Nevertheless, a notable progress has additionally been made in the clinical characterization of patients with the main neural antibodies, which, although typically present with a subacute pancerebellar syndrome, may also show either hyperacute or chronic onsets that complicate the differential diagnoses. However, prodromal and transient features could be useful clues for an early recognition, and extracerebellar involvement may also be highly indicative of the associated antibody. Moreover, important advances in our understanding of the pathogenesis of cerebellar ataxias include the description of antibody effects, especially those targeting cell-surface antigens, and first attempts to isolate antigen-specific T-cells. Furthermore, genetic predisposition seems relevant, although differently involved according to cancer association, with particular HLA observed in non-paraneoplastic cases and genetic abnormalities in the tumor cells in paraneoplastic ones. Finally, immune checkpoint inhibitors used as cancer immunotherapy may rarely induce cerebellar ataxias, but even this undesirable effect may in turn serve to shed some light on their physiopathology. Herein, we review the principal novelties of the last 20 years regarding autoimmune and paraneoplastic cerebellar ataxias.
Identifiants
pubmed: 35020135
doi: 10.1007/s12311-021-01363-3
pii: 10.1007/s12311-021-01363-3
doi:
Substances chimiques
Autoantibodies
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
573-591Subventions
Organisme : Fondation pour la recherche médicale
ID : DQ20170336751
Organisme : Agence nationale de la recherche
ID : ANR-18-RHUS-0012
Organisme : Agence nationale de la recherche
ID : ANR-11-LABX-0042
Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
Références
de Silva RN, Vallortigara J, Greenfield J, Hunt B, Giunti P, Hadjivassiliou M. Diagnosis and management of progressive ataxia in adults. Pract Neurol. 2019;19:196–207.
pubmed: 31048364
pmcid: 6585307
doi: 10.1136/practneurol-2018-002096
Hadjivassiliou M, Martindale J, Shanmugarajah P, Grünewald RA, Sarrigiannis PG, Beauchamp N, et al. Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients. J Neurol Neurosurg Psychiatry. 2017;88:301–9.
pubmed: 27965395
doi: 10.1136/jnnp-2016-314863
Mitoma H, Hadjivassiliou M, Honnorat J. Guidelines for treatment of immune-mediated cerebellar ataxias. Cerebellum Ataxias. 2015;2:14.
pubmed: 26561527
pmcid: 4641375
doi: 10.1186/s40673-015-0034-y
Gebus O, Montaut S, Monga B, Wirth T, Cheraud C, Alves Do Rego C, et al. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work. J Neurol. 2017;264:1118–26.
pubmed: 28478596
doi: 10.1007/s00415-017-8500-5
Joubert B 2019 Honnorat J. Nonparaneoplastic autoimmune cerebellar ataxias: Curr Opin Neurol 32:484–92
Narayan RN, McKeon A, Fife TD. Autoimmune vestibulocerebellar syndromes. Semin Neurol. 2020;40:97–115.
pubmed: 31958862
doi: 10.1055/s-0039-3402061
Hadjivassiliou M, Graus F, Honnorat J, Jarius S, Titulaer M, Manto M, et al. Diagnostic criteria for primary autoimmune cerebellar ataxia-guidelines from an international task force on immune-mediated cerebellar ataxias. Cerebellum. 2020;19:605–10.
pubmed: 32328884
pmcid: 7351847
doi: 10.1007/s12311-020-01132-8
Mitoma H, Honnorat J, Yamaguchi K, Manto M. Fundamental mechanisms of autoantibody-induced impairments on ion channels and synapses in immune-mediated cerebellar ataxias. Int J Mol Sci. 2020;21:E4936.
pubmed: 32668612
doi: 10.3390/ijms21144936
Yshii L, Bost C, Liblau R. Immunological bases of paraneoplastic cerebellar degeneration and therapeutic implications. Front Immunol. 2020;11:991.
pubmed: 32655545
pmcid: 7326021
doi: 10.3389/fimmu.2020.00991
Graus F, Delattre JY, Antoine JC, Dalmau J, Giometto B, Grisold W, et al. Recommended diagnostic criteria for paraneoplastic neurological syndromes. J Neurol Neurosurg Psychiatry. 2004;75:1135–40.
pubmed: 15258215
pmcid: 1739186
doi: 10.1136/jnnp.2003.034447
Trotter JL, Hendin BA, Osterland CK. Cerebellar degeneration with Hodgkin disease. An immunological study Arch Neurol. 1976;33:660–1.
pubmed: 962649
doi: 10.1001/archneur.1976.00500090066014
Greenlee JE, Brashear HR. Antibodies to cerebellar Purkinje cells in patients with paraneoplastic cerebellar degeneration and ovarian carcinoma. Ann Neurol. 1983;14:609–13.
pubmed: 6360029
doi: 10.1002/ana.410140603
Cunningham J, Graus F, Anderson N, Posner JB. Partial characterization of the Purkinje cell antigens in paraneoplastic cerebellar degeneration. Neurology. 1986;36:1163–8.
pubmed: 3528917
doi: 10.1212/WNL.36.9.1163
Luque FA, Furneaux HM, Ferziger R, Rosenblum MK, Wray SH, Schold SC, et al. Anti-Ri: an antibody associated with paraneoplastic opsoclonus and breast cancer. Ann Neurol. 1991;29:241–51.
pubmed: 2042940
doi: 10.1002/ana.410290303
Solimena M, Folli F, Denis-Donini S, Comi GC, Pozza G, De Camilli P, et al. Autoantibodies to glutamic acid decarboxylase in a patient with stiff-man syndrome, epilepsy, and type I diabetes mellitus. N Engl J Med. 1988;318:1012–20.
pubmed: 3281011
doi: 10.1056/NEJM198804213181602
Solimena M, Piccolo G, Martino G, Folli F, Fratino P, De Camilli P. Autoantibodies directed against gabaergic nerve terminals in a patient with idiopathic late-onset cerebellar ataxia and type IB diabetes mellitus. Clin Neuropathol. 1988;7:211.
Honnorat J, Saiz A, Giometto B, Vincent A, Brieva L, de Andres C, et al. Cerebellar ataxia with anti–glutamic acid decarboxylase antibodies: study of 14 patients. Arch Neurol. 2001;58:225–30.
pubmed: 11176960
doi: 10.1001/archneur.58.2.225
Dalmau J, Geis C, Graus F. Autoantibodies to synaptic receptors and neuronal cell surface proteins in autoimmune diseases of the central nervous system. Physiol Rev. 2017;97:839–87.
pubmed: 28298428
pmcid: 5539405
doi: 10.1152/physrev.00010.2016
Graus F, Vogrig A, Muñiz-Castrillo S, Antoine J-CG, Desestret V, Dubey D, et al. Updated diagnostic criteria for paraneoplastic neurologic syndromes. Neurol Neuroimmunol Neuroinflammation. 2021;8.
Shams’ili S, Grefkens J, de Leeuw B, van den Bent M, Hooijkaas H, van der Holt B, et al. Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: analysis of 50 patients. Brain. 2003;126:1409–18.
pubmed: 12764061
doi: 10.1093/brain/awg133
Ducray F, Demarquay G, Graus F, Decullier E, Antoine J-C, Giometto B, et al. Seronegative paraneoplastic cerebellar degeneration: the PNS Euronetwork experience. Eur J Neurol. 2014;21:731–5.
pubmed: 24471811
doi: 10.1111/ene.12368
Jones AL, Flanagan EP, Pittock SJ, Mandrekar JN, Eggers SD, Ahlskog JE, et al. Responses to and outcomes of treatment of autoimmune cerebellar ataxia in adults. JAMA Neurol. 2015;72:1304–12.
pubmed: 26414229
doi: 10.1001/jamaneurol.2015.2378
Vogrig A, Gigli GL, Segatti S, Corazza E, Marini A, Bernardini A, et al. Epidemiology of paraneoplastic neurological syndromes: a population-based study. J Neurol. 2020;267:26–35.
pubmed: 31552550
doi: 10.1007/s00415-019-09544-1
Hébert J, Riche B, Vogrig A, Muñiz-Castrillo S, Joubert B, Picard G, et al. Epidemiology of paraneoplastic neurologic syndromes and autoimmune encephalitides in France. Neurol Neuroimmunol Neuroinflammation. 2020;7.
Peterson K, Rosenblum MK, Kotanides H, Posner JB. Paraneoplastic cerebellar degeneration I A clinical analysis of 55 anti-Yo antibody-positive patients. Neurology. 1992;42:1931–7.
pubmed: 1407575
doi: 10.1212/WNL.42.10.1931
Linnoila J, Guo Y, Gadoth A, Raghunathan A, Parks B, McKeon A, et al. Purkinje cell cytoplasmic antibody type I (anti-Yo): predictive of gastrointestinal adenocarcinomas in men. J Neurol Neurosurg Psychiatry. 2018;89:1116–7.
pubmed: 29142142
doi: 10.1136/jnnp-2017-316829
Déchelotte B, Muñiz-Castrillo S, Joubert B, Vogrig A, Picard G, Rogemond V, et al. Diagnostic yield of commercial immunodots to diagnose paraneoplastic neurologic syndromes. Neurol Neuroimmunol Neuroinflammation. 2020;7.
Ruiz-García R, Martínez-Hernández E, Saiz A, Dalmau J, Graus F. The diagnostic value of onconeural antibodies depends on how they are tested. Front Immunol. 2020;11:1482.
pubmed: 32760403
pmcid: 7372120
doi: 10.3389/fimmu.2020.01482
Kråkenes T, Herdlevær I, Raspotnig M, Haugen M, Schubert M, Vedeler CA. CDR2L is the major Yo antibody target in paraneoplastic cerebellar degeneration. Ann Neurol. 2019;86:316–21.
pubmed: 31148214
doi: 10.1002/ana.25511
Herdlevær I, Haugen M, Mazengia K, Totland C, Vedeler C. Paraneoplastic cerebellar degeneration: the importance of including CDR2L as a diagnostic marker. Neurol Neuroimmunol Neuroinflammation. 2021;8.
McKeon A, Tracey JA, Pittock SJ, Parisi JE, Klein CJ, Lennon VA. Purkinje Cell Cytoplasmic Autoantibody Type 1 Accompaniments: The Cerebellum and Beyond. Arch Neurol. 2011;68:1282.
pubmed: 21670387
doi: 10.1001/archneurol.2011.128
Bernal F, Shams’ili S, Rojas I, Sanchez-Valle R, Saiz A, Dalmau J, et al. Anti-Tr antibodies as markers of paraneoplastic cerebellar degeneration and Hodgkin’s disease. Neurology. 2003;60:230–4.
pubmed: 12552036
doi: 10.1212/01.WNL.0000041495.87539.98
Dubey D, Wilson MR, Clarkson B, Giannini C, Gandhi M, Cheville J, et al. Expanded clinical phenotype, oncological associations, and immunopathologic insights of paraneoplastic kelch-like protein-11 encephalitis. JAMA Neurol. 2020;77:1420–9.
pubmed: 32744608
doi: 10.1001/jamaneurol.2020.2231
Vogrig A, Péricart S, Pinto A-L, Rogemond V, Muñiz-Castrillo S, Picard G, et al. Immunopathogenesis and proposed clinical score for identifying Kelch-like protein-11 encephalitis. Brain Commun. 2021;3:fcab185.
pubmed: 34557666
pmcid: 8453430
doi: 10.1093/braincomms/fcab185
Simard C, Vogrig A, Joubert B, Muñiz-Castrillo S, Picard G, Rogemond V, et al. Clinical spectrum and diagnostic pitfalls of neurologic syndromes with Ri antibodies. Neurol Neuroimmunol Neuroinflammation. 2020;7.
Pittock SJ, Lucchinetti CF, Lennon VA. Anti-neuronal nuclear autoantibody type 2: Paraneoplastic accompaniments. Ann Neurol. 2003;53:580–7.
pubmed: 12730991
doi: 10.1002/ana.10518
Gadoth A, Kryzer TJ, Fryer J, McKeon A, Lennon VA, Pittock SJ. Microtubule-associated protein 1B: novel paraneoplastic biomarker: MAP1B IgG. Ann Neurol. 2017;81:266–77.
pubmed: 28074593
doi: 10.1002/ana.24872
Dalmau J, Graus F, Villarejo A, Posner JB, Blumenthal D, Thiessen B, et al. Clinical analysis of anti-Ma2-associated encephalitis. Brain. 2004;127:1831–44.
pubmed: 15215214
doi: 10.1093/brain/awh203
Honnorat J, Cartalat-Carel S, Ricard D, Camdessanche JP, Carpentier AF, Rogemond V, et al. Onco-neural antibodies and tumour type determine survival and neurological symptoms in paraneoplastic neurological syndromes with Hu or CV2/CRMP5 antibodies. J Neurol Neurosurg Psychiatry. 2008;80:412–6.
pubmed: 18931014
doi: 10.1136/jnnp.2007.138016
Dubey D, Lennon VA, Gadoth A, Pittock SJ, Flanagan EP, Schmeling JE, et al. Autoimmune CRMP5 neuropathy phenotype and outcome defined from 105 cases. Neurology. 2018;90:e103–10.
pubmed: 29222126
doi: 10.1212/WNL.0000000000004803
Graus F, Vincent A, Pozo-Rosich P, Sabater L, Saiz A, Lang B, et al. Anti-glial nuclear antibody: Marker of lung cancer-related paraneoplastic neurological syndromes. J Neuroimmunol. 2005;165:166–71.
pubmed: 15949849
pmcid: 2586939
doi: 10.1016/j.jneuroim.2005.03.020
Pittock SJ, Lucchinetti CF, Parisi JE, Benarroch EE, Mokri B, Stephan CL, et al. Amphiphysin autoimmunity: Paraneoplastic accompaniments. Ann Neurol. 2005;58:96–107.
pubmed: 15984030
doi: 10.1002/ana.20529
Dubey D, Jitprapaikulsan J, Bi H, Do Campo RV, McKeon A, Pittock SJ, et al. Amphiphysin-IgG autoimmune neuropathy: A recognizable clinicopathologic syndrome. Neurology. 2019;93:e1873–80.
pubmed: 31624089
doi: 10.1212/WNL.0000000000008472
Graus F, Keime-Guibert F, Reñe R, Benyahia B, Ribalta T, Ascaso C, et al. Anti-Hu-associated paraneoplastic encephalomyelitis: analysis of 200 patients. Brain. 2001;124:1138–48.
pubmed: 11353730
doi: 10.1093/brain/124.6.1138
Yu Z, Kryzer TJ, Griesmann GE, Kim K, Benarroch EE, Lennon VA. CRMP-5 neuronal autoantibody: marker of lung cancer and thymoma-related autoimmunity. Ann Neurol. 2001;49:146–54.
pubmed: 11220734
doi: 10.1002/1531-8249(20010201)49:2<146::AID-ANA34>3.0.CO;2-E
Graus F, Dalmau J, Valldeoriola F, Ferrer I, Reñé R, Marin C, et al. Immunological characterization of a neuronal antibody (anti-Tr) associated with paraneoplastic cerebellar degeneration and Hodgkin’s disease. J Neuroimmunol. 1997;74:55–61.
pubmed: 9119979
doi: 10.1016/S0165-5728(96)00205-6
de Graaff E, Maat P, Hulsenboom E, van den Berg R, van den Bent M, Demmers J, et al. Identification of delta/notch-like epidermal growth factor-related receptor as the Tr antigen in paraneoplastic cerebellar degeneration. Ann Neurol. 2012;71:815–24.
pubmed: 22447725
doi: 10.1002/ana.23550
Mandel-Brehm C, Dubey D, Kryzer TJ, O’Donovan BD, Tran B, Vazquez SE, et al. Kelch-like protein 11 antibodies in seminoma-associated paraneoplastic encephalitis. N Engl J Med. 2019;381:47–54.
pubmed: 31269365
pmcid: 6800027
doi: 10.1056/NEJMoa1816721
Maudes E, Landa J, Muñoz-Lopetegi A, Armangue T, Alba M, Saiz A, et al. Clinical significance of Kelch-like protein 11 antibodies. Neurol - Neuroimmunol Neuroinflammation. 2020;7:e666.
doi: 10.1212/NXI.0000000000000666
Saiz A, Blanco Y, Sabater L, González F, Bataller L, Casamitjana R, et al. Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association. Brain. 2008;131:2553–63.
pubmed: 18687732
doi: 10.1093/brain/awn183
Gresa-Arribas N, Ariño H, Martínez-Hernández E, Petit-Pedrol M, Sabater L, Saiz A, et al. Antibodies to inhibitory synaptic proteins in neurological syndromes associated with glutamic acid decarboxylase autoimmunity. PLOS ONE. 2015;10:e0121364.
pubmed: 25774787
pmcid: 4361655
doi: 10.1371/journal.pone.0121364
Guasp M, Solà-Valls N, Martínez-Hernández E, Gil MP, González C, Brieva L, et al. Cerebellar ataxia and autoantibodies restricted to glutamic acid decarboxylase 67 (GAD67). J Neuroimmunol. 2016;300:15–7.
pubmed: 27806870
pmcid: 5831398
doi: 10.1016/j.jneuroim.2016.09.019
Nanri K, Niwa H, Mitoma H, Takei A, Ikeda J, Harada T, et al. Low-titer anti-GAD-antibody-positive cerebellar ataxia. The Cerebellum. 2013;12:171–5.
pubmed: 22923147
doi: 10.1007/s12311-012-0411-5
Petrijan T, Menih M. Low-Titre GAD Antibody-associated late-onset cerebellar ataxia with a significant clinical response to intravenous immunoglobulin treatment. The Cerebellum. 2017;16:868–71.
pubmed: 28321713
doi: 10.1007/s12311-017-0851-z
Muñoz-Lopetegi A, de Bruijn MAAM, Boukhrissi S, Bastiaansen AEM, Nagtzaam MMP, Hulsenboom ESP, et al. Neurologic syndromes related to anti-GAD65: Clinical and serologic response to treatment. Neurol - Neuroimmunol Neuroinflammation. 2020;7:e696.
doi: 10.1212/NXI.0000000000000696
Budhram A, Sechi E, Flanagan EP, Dubey D, Zekeridou A, Shah SS, et al. Clinical spectrum of high-titre GAD65 antibodies. J Neurol Neurosurg Psychiatry. 2021;92:645–54.
doi: 10.1136/jnnp-2020-325275
Ariño H, Höftberger R, Gresa-Arribas N, Martínez-Hernández E, Armangue T, Kruer MC, et al. Paraneoplastic neurological syndromes and glutamic acid decarboxylase antibodies. JAMA Neurol. 2015;72:874.
pubmed: 26099072
pmcid: 4838033
doi: 10.1001/jamaneurol.2015.0749
Hadjivassiliou M, Aeschlimann P, Strigun A, Sanders DS, Woodroofe N, Aeschlimann D. Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase. Ann Neurol. 2008;64:332–43.
pubmed: 18825674
doi: 10.1002/ana.21450
Hadjivassiliou M, Aeschlimann P, Sanders DS, Mäki M, Kaukinen K, Grünewald RA, et al. Transglutaminase 6 antibodies in the diagnosis of gluten ataxia. Neurology. 2013;80:1740–5.
pubmed: 23576621
doi: 10.1212/WNL.0b013e3182919070
Hadjivassiliou M, Aeschlimann D, Grünewald RA, Sanders DS, Sharrack B, Woodroofe N. GAD antibody-associated neurological illness and its relationship to gluten sensitivity. Acta Neurol Scand. 2011;123:175–80.
pubmed: 20456245
doi: 10.1111/j.1600-0404.2010.01356.x
Hadjivassiliou M, Sarrigiannis PG, Shanmugarajah PD, Sanders DS, Grünewald RA, Zis P, et al. Clinical characteristics and management of 50 patients with anti-GAD ataxia: gluten-free diet has a major impact. Cerebellum. 2021;20:179–85.
pubmed: 33084997
doi: 10.1007/s12311-020-01203-w
Zis P, Hadjivassiliou M. Treatment of Neurological manifestations of gluten sensitivity and coeliac disease. Curr Treat Options Neurol. 2019;21:10.
pubmed: 30806821
doi: 10.1007/s11940-019-0552-7
Hadjivassiliou M, Grϋnewald RA 2021 Gluten ataxia: an underdiagnosed condition. cerebellum
Irani SR, Alexander S, Waters P, Kleopa KA, Pettingill P, Zuliani L, et al. Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis. Morvan’s syndrome and acquired neuromyotonia Brain. 2010;133:2734–48.
pubmed: 20663977
Lancaster E, Huijbers MGM, Bar V, Boronat A, Wong A, Martinez-Hernandez E, et al. Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia. Ann Neurol. 2011;69:303–11.
pubmed: 21387375
pmcid: 3059252
doi: 10.1002/ana.22297
van Sonderen A, Petit-Pedrol M, Dalmau J, Titulaer MJ. The value of LGI1, Caspr2 and voltage-gated potassium channel antibodies in encephalitis. Nat Rev Neurol. 2017;13:290–301.
pubmed: 28418022
doi: 10.1038/nrneurol.2017.43
Becker EBE, Zuliani L, Pettingill R, Lang B, Waters P, Dulneva A, et al. Contactin-associated protein-2 antibodies in non-paraneoplastic cerebellar ataxia. J Neurol Neurosurg Psychiatry. 2012;83:437–40.
pubmed: 22338029
doi: 10.1136/jnnp-2011-301506
Balint B, Regula JU, Jarius S, Wildemann B. Caspr2 antibodies in limbic encephalitis with cerebellar ataxia, dyskinesias and myoclonus. J Neurol Sci. 2013;327:73–4.
pubmed: 23465509
doi: 10.1016/j.jns.2013.01.040
van Sonderen A, Ariño H, Petit-Pedrol M, Leypoldt F, Körtvélyessy P, Wandinger K-P, et al. The clinical spectrum of Caspr2 antibody–associated disease. Neurology. 2016;87:521–8.
pubmed: 27371488
pmcid: 4970662
doi: 10.1212/WNL.0000000000002917
Joubert B, Saint-Martin M, Noraz N, Picard G, Rogemond V, Ducray F, et al. Characterization of a subtype of autoimmune encephalitis with anti–contactin-associated protein-like 2 antibodies in the cerebrospinal fluid, prominent limbic symptoms, and seizures. JAMA Neurol. 2016;73:1115.
pubmed: 27428927
doi: 10.1001/jamaneurol.2016.1585
Muñiz-Castrillo S, Joubert B, Elsensohn M-H, Pinto A-L, Saint-Martin M, Vogrig A, et al. Anti-CASPR2 clinical phenotypes correlate with HLA and immunological features. J Neurol Neurosurg Psychiatry. 2020;91:1076–84.
pubmed: 32651251
doi: 10.1136/jnnp-2020-323226
Hutchinson M, Waters P, McHugh J, Gorman G, O’Riordan S, Connolly S, et al. Progressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody. Neurology. 2008;71:1291–2.
pubmed: 18852446
doi: 10.1212/01.wnl.0000327606.50322.f0
Boronat A, Gelfand JM, Gresa-Arribas N, Jeong H-Y, Walsh M, Roberts K, et al. Encephalitis and antibodies to dipeptidyl-peptidase-like protein-6 a subunit of Kv42 potassium channels. Ann Neurol. 2013;73:120–8.
pubmed: 23225603
doi: 10.1002/ana.23756
Sabater L, Gaig C, Gelpi E, Bataller L, Lewerenz J, Torres-Vega E, et al. A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study. Lancet Neurol. 2014;13:575–86.
pubmed: 24703753
pmcid: 4104022
doi: 10.1016/S1474-4422(14)70051-1
Gaig C, Graus F, Compta Y, Högl B, Bataller L, Brüggemann N, et al. Clinical manifestations of the anti-IgLON5 disease. Neurology. 2017;88:1736–43.
pubmed: 28381508
pmcid: 5409845
doi: 10.1212/WNL.0000000000003887
Honorat JA, Komorowski L, Josephs KA, Fechner K, St Louis EK, Hinson SR, et al. IgLON5 antibody: neurological accompaniments and outcomes in 20 patients. Neurol - Neuroimmunol Neuroinflammation. 2017;4:e385.
doi: 10.1212/NXI.0000000000000385
Gaig C, Compta Y, Heidbreder A, Marti MJ, Titulaer MJ, Crijnen Y, et al. Frequency and characterization of movement disorders in anti-IgLON5 disease. Neurology. 2021. https://doi.org/10.1212/WNL.0000000000012639 .
doi: 10.1212/WNL.0000000000012639
pubmed: 34380749
Carvajal-González A, Leite MI, Waters P, Woodhall M, Coutinho E, Balint B, et al. Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes. Brain. 2014;137:2178–92.
pubmed: 24951641
pmcid: 4107739
doi: 10.1093/brain/awu142
Piquet AL, Khan M, Warner JEA, Wicklund MP, Bennett JL, Leehey MA, et al. Novel clinical features of glycine receptor antibody syndrome: a series of 17 cases. Neurol - Neuroimmunol Neuroinflammation. 2019;6:e592.
doi: 10.1212/NXI.0000000000000592
Hara M, Ariño H, Petit-Pedrol M, Sabater L, Titulaer MJ, Martinez-Hernandez E, et al. DPPX antibody–associated encephalitis: main syndrome and antibody effects. Neurology. 2017;88:1340–8.
pubmed: 28258082
pmcid: 5379928
doi: 10.1212/WNL.0000000000003796
Tobin WO, Lennon VA, Komorowski L, Probst C, Clardy SL, Aksamit AJ, et al. DPPX potassium channel antibody: frequency, clinical accompaniments, and outcomes in 20 patients. Neurology. 2014;83:1797–803.
pubmed: 25320100
pmcid: 4240433
doi: 10.1212/WNL.0000000000000991
Poorthuis MHF, van Rooij JLM, Koch AH, Verdonkschot AEM, Leembruggen MM, Titulaer MJ. Cerebellar ataxia as a presenting symptom in a patient with anti-NMDA receptor encephalitis. Neurol Neuroimmunol Neuroinflammation. 2019;6:e579.
doi: 10.1212/NXI.0000000000000579
Martinez-Hernandez E, Guasp M, García-Serra A, Maudes E, Ariño H, Sepulveda M, et al. Clinical significance of anti-NMDAR concurrent with glial or neuronal surface antibodies. Neurology. 2020;94:e2302–10.
pubmed: 32161029
doi: 10.1212/WNL.0000000000009239
Spatola M, Petit Pedrol M, Maudes E, Simabukuro M, Muñiz-Castrillo S, Pinto A-L, et al. Clinical features, prognostic factors, and antibody effects in anti-mGluR1 encephalitis. Neurology. 2020;95:e3012–25.
pubmed: 32928978
pmcid: 7734921
doi: 10.1212/WNL.0000000000010854
Hoftberger R, van Sonderen A, Leypoldt F, Houghton D, Geschwind M, Gelfand J, et al. Encephalitis and AMPA receptor antibodies: novel findings in a case series of 22 patients. Neurology. 2015;84:2403–12.
pubmed: 25979696
pmcid: 4478035
doi: 10.1212/WNL.0000000000001682
Joubert B, Kerschen P, Zekeridou A, Desestret V, Rogemond V, Chaffois M-O, et al. Clinical spectrum of encephalitis associated with antibodies against the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor: case series and review of the literature. JAMA Neurol. 2015;72:1163.
pubmed: 26280228
doi: 10.1001/jamaneurol.2015.1715
Pettingill P, Kramer HB, Coebergh JA, Pettingill R, Maxwell S, Nibber A, et al. Antibodies to GABAA receptor a1 and g2 subunits: clinical and serological characterization. Neurology. 2015;84:1233–41.
pubmed: 25636713
pmcid: 4366091
doi: 10.1212/WNL.0000000000001326
Spatola M, Petit-Pedrol M, Simabukuro MM, Armangue T, Castro FJ, Barcelo Artigues MI, et al. Investigations in GABA
pubmed: 28202703
pmcid: 5384834
doi: 10.1212/WNL.0000000000003713
Hoftberger R, Titulaer MJ, Sabater L, Dome B, Rozsas A, Hegedus B, et al. Encephalitis and GABAB receptor antibodies: novel findings in a new case series of 20 patients. Neurology. 2013;81:1500–6.
pubmed: 24068784
pmcid: 3888170
doi: 10.1212/WNL.0b013e3182a9585f
Jeffery OJ, Lennon VA, Pittock SJ, Gregory JK, Britton JW, McKeon A. GABAB receptor autoantibody frequency in service serologic evaluation. Neurology. 2013;81:882–7.
pubmed: 23925760
pmcid: 3885220
doi: 10.1212/WNL.0b013e3182a35271
Titulaer MJ, McCracken L, Gabilondo I, Armangué T, Glaser C, Iizuka T, et al. Treatment and prognostic factors for long-term outcome in patients with anti-NMDA receptor encephalitis: an observational cohort study. Lancet Neurol. 2013;12:157–65.
pubmed: 23290630
pmcid: 3563251
doi: 10.1016/S1474-4422(12)70310-1
Graus F, Lang B, Pozo-Rosich P, Saiz A, Casamitjana R, Vincent A. P/Q type calcium-channel antibodies in paraneoplastic cerebellar degeneration with lung cancer. Neurology. 2002;59:764–6.
pubmed: 12221175
doi: 10.1212/WNL.59.5.764
Smitt PS, Kinoshita A, De Leeuw B, Moll W, Coesmans M, Jaarsma D, et al. Paraneoplastic cerebellar ataxia due to autoantibodies against a glutamate receptor. N Engl J Med. 2000;342:21–7.
doi: 10.1056/NEJM200001063420104
Marignier R, Chenevier F, Rogemond V, Sillevis Smitt P, Renoux C, Cavillon G, et al. Metabotropic glutamate receptor type 1 autoantibody–associated cerebellitis: a primary autoimmune disease? Arch Neurol. 2010;67:627–30.
pubmed: 20457964
doi: 10.1001/archneurol.2010.51
Lopez-Chiriboga AS, Komorowski L, Kümpfel T, Probst C, Hinson SR, Pittock SJ, et al. Metabotropic glutamate receptor type 1 autoimmunity: clinical features and treatment outcomes. Neurology. 2016;86:1009–13.
pubmed: 26888994
pmcid: 4799712
doi: 10.1212/WNL.0000000000002476
Do LD, Gupton SL, Tanji K, Bastien J, Brugière S, Couté Y, et al. TRIM9 and TRIM67 are new targets in paraneoplastic cerebellar degeneration. Cerebellum Lond Engl. 2019;18:245–54.
doi: 10.1007/s12311-018-0987-5
Zuliani L, Sabater L, Saiz A, Baiges JJ, Giometto B, Graus F. Homer 3 autoimmunity in subacute idiopathic cerebellar ataxia. Neurology. 2007;68:239–40.
pubmed: 17224583
doi: 10.1212/01.wnl.0000251308.79366.f9
Höftberger R, Sabater L, Ortega A, Dalmau J, Graus F. Patient with homer-3 antibodies and cerebellitis. JAMA Neurol. 2013;70:506–9.
pubmed: 23400636
pmcid: 3723144
doi: 10.1001/jamaneurol.2013.1955
Liu M, Ren H, Fan S, Zhang W, Xu Y, Zhao W, et al. Neurological Autoimmunity associated with Homer-3 antibody: a case series from China. Neurol Neuroimmunol Neuroinflammation. 2021;8:e1077.
doi: 10.1212/NXI.0000000000001077
Landa J, Guasp M, Petit-Pedrol M, Martínez-Hernández E, Planagumà J, Saiz A, et al. Seizure-related 6 homolog like 2 autoimmunity: Neurologic syndrome and antibody effects. Neurol Neuroimmunol Neuroinflammation. 2021;8:e916.
doi: 10.1212/NXI.0000000000000916
Yaguchi H, Yabe I, Takahashi H, Okumura F, Takeuchi A, Horiuchi K, et al. Identification of anti-Sez6l2 antibody in a patient with cerebellar ataxia and retinopathy. J Neurol. 2014;261:224–6.
pubmed: 24272587
doi: 10.1007/s00415-013-7134-5
Borsche M, Hahn S, Hanssen H, Münchau A, Wandinger K-P, Brüggemann N. Sez6l2-antibody-associated progressive cerebellar ataxia: a differential diagnosis of atypical parkinsonism. J Neurol. 2019;266:522–4.
pubmed: 30460451
doi: 10.1007/s00415-018-9115-1
Honorat JA, Lopez-Chiriboga AS, Kryzer TJ, Fryer JP, Devine M, Flores A, et al. Autoimmune septin-5 cerebellar ataxia. Neurol Neuroimmunol Neuroinflammation. 2018;5:e474.
doi: 10.1212/NXI.0000000000000474
Herrero San Martin A, Amarante Cuadrado C, Gonzalez Arbizu M, Rábano-Suárez P, Ostos-Moliz F, Naranjo L, et al. Autoimmune septin-5 disease presenting as spinocerebellar ataxia and nystagmus. Neurology. 2021;97:291–2.
pubmed: 34031206
doi: 10.1212/WNL.0000000000012240
Bataller L, Sabater L, Saiz A, Serra C, Claramonte B, Graus F. Carbonic anhydrase-related protein VIII: autoantigen in paraneoplastic cerebellar degeneration. Ann Neurol. 2004;56:575–9.
pubmed: 15389893
doi: 10.1002/ana.20238
Höftberger R, Sabater L, Velasco F, Ciordia R, Dalmau J, Graus F. Carbonic anhydrase-related protein VIII antibodies and paraneoplastic cerebellar degeneration. Neuropathol Appl Neurobiol. 2014;40:650–3.
pubmed: 24446689
pmcid: 4077932
doi: 10.1111/nan.12118
Prevezianou A, Tzartos JS, Dagklis IE, Bentenidi E, Angelopoulos P, Bostantjopoulou S. Paraneoplastic cerebellar degeneration in a patient with breast cancer associated with carbonic anhydrase-related protein VIII autoantibodies. J Neuroimmunol. 2020;344:577242.
pubmed: 32325285
doi: 10.1016/j.jneuroim.2020.577242
Ruiz-García R, Martínez-Hernández E, Joubert B, Petit-Pedrol M, Pajarón-Boix E, Fernández V, et al. Paraneoplastic cerebellar ataxia and antibodies to metabotropic glutamate receptor 2. Neurol Neuroimmunol Neuroinflammation. 2020;7.
Sabater L, Bataller L, Carpentier AF, Aguirre-Cruz ML, Saiz A, Benyahia B, et al. Protein kinase Cgamma autoimmunity in paraneoplastic cerebellar degeneration and non-small-cell lung cancer. J Neurol Neurosurg Psychiatry. 2006;77:1359–62.
pubmed: 16801349
pmcid: 2077410
doi: 10.1136/jnnp.2006.097188
Höftberger R, Kovacs GG, Sabater L, Nagy P, Racz G, Miquel R, et al. Protein kinase Cγ antibodies and paraneoplastic cerebellar degeneration. J Neuroimmunol. 2013;256:91–3.
pubmed: 23273977
doi: 10.1016/j.jneuroim.2012.12.002
Miske R, Scharf M, Stark P, Dietzel H, Bien CI, Borchers C, et al. Autoantibodies against the Purkinje cell protein RGS8 in paraneoplastic cerebellar syndrome. Neurol Neuroimmunol Neuroinflammation. 2021;8:e987.
doi: 10.1212/NXI.0000000000000987
van Coevorden-Hameete MH, de Graaff E, Titulaer MJ, Hulsenboom E, Sabater L, Hoogenraad CC, et al. Plasticity-related gene 5: a novel surface autoantigen in paraneoplastic cerebellar degeneration. Neurol Neuroimmunol Neuroinflammation. 2015;2:e156.
doi: 10.1212/NXI.0000000000000156
Landa J, Guasp M, Míguez-Cabello F, Guimarães J, Mishima T, Oda F, et al. Encephalitis with autoantibodies against the glutamate kainate receptors GluK2. Ann Neurol. 2021;90:101–17.
pubmed: 33949707
doi: 10.1002/ana.26098
Miske R, Gross CC, Scharf M, Golombeck KS, Hartwig M, Bhatia U, et al. Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration. Neurol Neuroimmunol Neuroinflammation. 2017;4:e307.
doi: 10.1212/NXI.0000000000000307
Rommel FR, Miske R, Stöcker W, Arneth B, Neubauer BA, Hahn A. Chorea minor associated with anti-neurochondrin autoantibodies. Neuropediatrics. 2017;48:482–3.
pubmed: 28962041
doi: 10.1055/s-0037-1606371
Shelly S, Kryzer TJ, Komorowski L, Miske R, Anderson MD, Flanagan EP, et al. Neurochondrin neurological autoimmunity. Neurol Neuroimmunol Neuroinflammation. 2019;6.
Weihua Z, Haitao R, Fang F, Xunzhe Y, Jing W, Hongzhi G. Neurochondrin antibody serum positivity in three cases of autoimmune cerebellar ataxia. Cerebellum. 2019;18:1137–42.
pubmed: 31179511
doi: 10.1007/s12311-019-01048-y
van Coevorden-Hameete MH, van Beuningen SFB, Perrenoud M, Will LM, Hulsenboom E, Demonet J-F, et al. Antibodies to TRIM46 are associated with paraneoplastic neurological syndromes. Ann Clin Transl Neurol. 2017;4:680–6.
pubmed: 28904989
pmcid: 5590547
doi: 10.1002/acn3.396
Jarius S, Wandinger KP, Horn S, Heuer H, Wildemann B. A new Purkinje cell antibody (anti-Ca) associated with subacute cerebellar ataxia: immunological characterization. J Neuroinflammation. 2010;7:21.
pubmed: 20226058
pmcid: 2848133
doi: 10.1186/1742-2094-7-21
Jarius S, Martínez-García P, Hernandez AL, Brase JC, Borowski K, Regula JU, et al. Two new cases of anti-Ca (anti-ARHGAP26/GRAF) autoantibody-associated cerebellar ataxia. J Neuroinflammation. 2013;10:7.
pubmed: 23320754
pmcid: 3549891
Doss S, Nümann A, Ziegler A, Siebert E, Borowski K, Stöcker W, et al. Anti-Ca/anti-ARHGAP26 antibodies associated with cerebellar atrophy and cognitive decline. J Neuroimmunol. 2014;267:102–4.
pubmed: 24439423
doi: 10.1016/j.jneuroim.2013.10.010
Wallwitz U, Brock S, Schunck A, Wildemann B, Jarius S, Hoffmann F. From dizziness to severe ataxia and dysarthria: new cases of anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia suggest a broad clinical spectrum. J Neuroimmunol. 2017;309:77–81.
pubmed: 28601293
doi: 10.1016/j.jneuroim.2017.05.011
Bartels F, Prüss H, Finke C. Anti-ARHGAP26 autoantibodies are associated with isolated cognitive impairment. Front Neurol. 2018;9:656.
pubmed: 30158896
pmcid: 6104436
doi: 10.3389/fneur.2018.00656
Jarius S, Scharf M, Begemann N, Stöcker W, Probst C, Serysheva II, et al. Antibodies to the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in cerebellar ataxia. J Neuroinflammation. 2014;11:206.
pubmed: 25498830
pmcid: 4300617
doi: 10.1186/s12974-014-0206-3
Jarius S, Ringelstein M, Haas J, Serysheva II, Komorowski L, Fechner K, et al. Inositol 1,4,5-trisphosphate receptor type 1 autoantibodies in paraneoplastic and non-paraneoplastic peripheral neuropathy. J Neuroinflammation. 2016;13:278.
pubmed: 27776522
pmcid: 5078930
doi: 10.1186/s12974-016-0737-x
Fouka P, Alexopoulos H, Chatzi I, Dedos SG, Samiotaki M, Panayotou G, et al. Antibodies to inositol 1,4,5-triphosphate receptor 1 in patients with cerebellar disease. Neurol Neuroimmunol Neuroinflammation. 2017;4:e306.
doi: 10.1212/NXI.0000000000000306
Berzero G, Hacohen Y, Komorowski L, Scharf M, Dehais C, Leclercq D, et al. Paraneoplastic cerebellar degeneration associated with anti-ITPR1 antibodies. Neurol - Neuroimmunol Neuroinflammation. 2017;4:e326.
doi: 10.1212/NXI.0000000000000326
Alfugham N, Gadoth A, Lennon VA, Komorowski L, Scharf M, Hinson S, et al. ITPR1 autoimmunity: Frequency neurologic phenotype and cancer association. Neurol Neuroimmunol Neuroinflammation. 2018;5:e418.
doi: 10.1212/NXI.0000000000000418
Honorat JA, Lopez-Chiriboga AS, Kryzer TJ, Komorowski L, Scharf M, Hinson SR, et al. Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG. Neurology. 2019;93:e954–63.
pubmed: 31371564
pmcid: 6745733
doi: 10.1212/WNL.0000000000008061
Basal E, Zalewski N, Kryzer TJ, Hinson SR, Guo Y, Dubey D, et al. Paraneoplastic neuronal intermediate filament autoimmunity. Neurology. 2018;91:e1677–89.
pubmed: 30282771
pmcid: 6207411
doi: 10.1212/WNL.0000000000006435
McKeon A, Shelly S, Zivelonghi C, Basal E, Dubey D, Flanagan E, et al. Neuronal intermediate filament IgGs in CSF: autoimmune axonopathy biomarkers. Ann Clin Transl Neurol. 2021;8:425–39.
pubmed: 33369283
doi: 10.1002/acn3.51284
Chan KH, Vernino S, Lennon VA. ANNA-3 anti-neuronal nuclear antibody: Marker of lung cancer-related autoimmunity. Ann Neurol. 2001;50:301–11.
pubmed: 11558786
doi: 10.1002/ana.1127
Dubey D, Kryzer T, Guo Y, Clarkson B, Cheville JC, Costello BA, et al. Leucine zipper 4 autoantibody: a novel germ cell tumor and paraneoplastic biomarker. Ann Neurol. 2021;89:1001–10.
pubmed: 33583072
doi: 10.1002/ana.26050
Do L-D, Moritz CP, Muñiz-Castrillo S, Pinto A-L, Tholance Y, Brugiere S, et al. Argonaute autoantibodies as biomarkers in autoimmune neurologic diseases. Neurol Neuroimmunol Neuroinflammation. 2021;8:e1032.
doi: 10.1212/NXI.0000000000001032
Bataller L, Wade DF, Graus F, Stacey HD, Rosenfeld MR, Dalmau J. Antibodies to Zic4 in paraneoplastic neurologic disorders and small-cell lung cancer. Neurology. 2004;62:778–82.
pubmed: 15007130
doi: 10.1212/01.WNL.0000113749.77217.01
Sabater L, Bataller L, Suárez-Calvet M, Saiz A, Dalmau J, Graus F. ZIC antibodies in paraneoplastic cerebellar degeneration and small cell lung cancer. J Neuroimmunol. 2008;201–202:163–5.
pubmed: 18639938
pmcid: 2582201
doi: 10.1016/j.jneuroim.2008.01.018
Sabater L, Höftberger R, Boronat A, Saiz A, Dalmau J, Graus F. Antibody repertoire in paraneoplastic cerebellar degeneration and small cell lung cancer. Platten M editor PLoS ONE. 2013;8:e60438.
doi: 10.1371/journal.pone.0060438
Berridge G, Menassa DA, Moloney T, Waters PJ, Welding I, Thomsen S, et al. Glutamate receptor δ2 serum antibodies in pediatric opsoclonus myoclonus ataxia syndrome. Neurology. 2018;91:e714–23.
pubmed: 30045961
pmcid: 6107266
doi: 10.1212/WNL.0000000000006035
Armangue T, Titulaer MJ, Sabater L, Pardo-Moreno J, Gresa-Arribas N, Barbero-Bordallo N, et al. A novel treatment-responsive encephalitis with frequent opsoclonus and teratoma. Ann Neurol. 2014;75:435–41.
pubmed: 23613036
doi: 10.1002/ana.23917
Armangué T, Sabater L, Torres-Vega E, Martínez-Hernández E, Ariño H, Petit-Pedrol M, et al. Clinical and immunological features of opsoclonus-myoclonus syndrome in the era of neuronal cell surface antibodies. JAMA Neurol. 2016;73:417.
pubmed: 26856612
pmcid: 5823978
doi: 10.1001/jamaneurol.2015.4607
Petit-Pedrol M, Guasp M, Armangue T, Lavarino C, Morales La Madrid A, Saiz A, et al. Absence of GluD2 antibodies in patients with opsoclonus-myoclonus syndrome. Neurology. 2021;96:e1082-7.
pubmed: 33443132
pmcid: 8055333
Vogrig A, Bernardini A, Gigli GL, Corazza E, Marini A, Segatti S, et al. Stroke-like presentation of paraneoplastic cerebellar degeneration: a single-center experience and review of the literature. The Cerebellum. 2019;18:976–82.
pubmed: 31463826
doi: 10.1007/s12311-019-01075-9
Dalmau J, Gonzalez RG, Lerwill MF. Case 4–2007: A 56-year-old woman with rapidly progressive vertigo and ataxia. N Engl J Med. 2007;356:612–20.
pubmed: 17287482
doi: 10.1056/NEJMcpc069035
Ogawa E, Sakakibara R, Kawashima K, Yoshida T, Kishi M, Tateno F, et al. VGCC antibody-positive paraneoplastic cerebellar degeneration presenting with positioning vertigo. Neurol Sci. 2011;32:1209–12.
pubmed: 21678073
doi: 10.1007/s10072-011-0648-7
Matsumoto S. Acute attacks and brain stem signs in a patient with glutamic acid decarboxylase autoantibodies. J Neurol Neurosurg Psychiatry. 2002;73:345–6.
pubmed: 12185181
pmcid: 1738007
doi: 10.1136/jnnp.73.3.345
Ariño H, Gresa-Arribas N, Blanco Y, Martínez-Hernández E, Sabater L, Petit-Pedrol M, et al. Cerebellar ataxia and glutamic acid decarboxylase antibodies: immunologic profile and long-term effect of immunotherapy. JAMA Neurol. 2014;71:1009.
pubmed: 24934144
pmcid: 4841264
doi: 10.1001/jamaneurol.2014.1011
Muñiz-Castrillo S, Vogrig A, Joubert B, Pinto A-L, Gonçalves D, Chaumont H, et al. Transient neurological symptoms preceding cerebellar ataxia with glutamic acid decarboxylase antibodies. Cerebellum. 2020;19:715–21.
pubmed: 32592031
doi: 10.1007/s12311-020-01159-x
Joubert B, Gobert F, Thomas L, Saint-Martin M, Desestret V, Convers P, et al. Autoimmune episodic ataxia in patients with anti-CASPR2 antibody-associated encephalitis. Neurol - Neuroimmunol Neuroinflammation. 2017;4:e371.
doi: 10.1212/NXI.0000000000000371
van Broekhoven PCA, Frens MA, Sillevis Smitt PA, van der Geest JN. Eye movements as a marker for cerebellar damage in paraneoplastic neurological syndromes. Parkinsonism Relat Disord. 2007;13(Suppl 3):S296-300.
pubmed: 18267253
doi: 10.1016/S1353-8020(08)70019-1
Bataller L, Dalmau J. Neuro-ophthalmology and paraneoplastic syndromes. Curr Opin Neurol. 2004;17:3–8.
pubmed: 15090871
doi: 10.1097/00019052-200402000-00003
Bohm PE, Chen JJ, Bhatti TM, Eggenberger ER. Neuro-ophthalmic features of autoimmune encephalitides. J Neuro-Ophthalmol Off J North Am Neuro-Ophthalmol Soc. 2020;40:385–97.
doi: 10.1097/WNO.0000000000001005
Wray SH, Martinez-Hernandez E, Dalmau J, Maheshwari A, Chen A, King S, et al. Paraneoplastic upbeat nystagmus. Neurology. 2011;77:691–3.
pubmed: 21813784
pmcid: 3159092
doi: 10.1212/WNL.0b013e318229e6a5
Martins AI, Carvalho JN, Amorim AM, Geraldo A, Eggenberger E, Lemos J. Disabling central paroxysmal positioning upbeat nystagmus and vertigo associated with the presence of anti–glutamic acid decarboxylase antibodies. J Neuroophthalmol. 2018;38:32–5.
pubmed: 28767521
doi: 10.1097/WNO.0000000000000547
Tilikete C, Vighetto A, Trouillas P, Honnorat J. Anti-GAD antibodies and periodic alternating nystagmus. Arch Neurol. 2005;62:1300.
pubmed: 16087772
doi: 10.1001/archneur.62.8.1300
Bohm P, Eggenberger ER, Dubey D, Kim HW, Lopez Chiriboga AS. Teaching video neuroimages: periodic alternating nystagmus in paraneoplastic KLHL11 rhomboencephalitis. Neurology. 2021;96:e2668–9.
pubmed: 33589533
doi: 10.1212/WNL.0000000000011711
Muñiz-Castrillo S, Vogrig A, Montagnac C, Joubert B, Benaiteau M, Casez O, et al. Familial autoimmunity in neurological patients with GAD65 antibodies: an interview-based study. J Neurol. 2021;268:2515–22.
pubmed: 33544221
doi: 10.1007/s00415-021-10424-w
Muñiz-Castrillo S, Vogrig A, Honnorat J. Associations between HLA and autoimmune neurological diseases with autoantibodies. Autoimmun Highlights. 2020;11:2.
doi: 10.1186/s13317-019-0124-6
Vogrig A, Muñiz-Castrillo S, Desestret V, Joubert B, Honnorat J. Pathophysiology of paraneoplastic and autoimmune encephalitis: genes, infections, and checkpoint inhibitors. Ther Adv Neurol Disord. 2020;13:1756286420932797.
pubmed: 32636932
pmcid: 7318829
doi: 10.1177/1756286420932797
Graus F, Illa I, Agusti M, Ribalta T, Cruz-Sanchez F, Juarez C. Effect of intraventricular injection of an anti-Purkinje cell antibody (anti-Yo) in a guinea pig model. J Neurol Sci. 1991;106:82–7.
pubmed: 1779243
doi: 10.1016/0022-510X(91)90198-G
Greenlee JE, Clawson SA, Hill KE, Wood BL, Tsunoda I, Carlson NG. Purkinje cell death after uptake of anti-Yo antibodies in cerebellar slice cultures. J Neuropathol Exp Neurol. 2010;69:997–1007.
pubmed: 20838245
doi: 10.1097/NEN.0b013e3181f0c82b
Greenlee JE, Clawson SA, Hill KE, Wood B, Clardy SL, Tsunoda I, et al. Anti-Yo antibody uptake and interaction with its intracellular target antigen causes Purkinje cell death in rat cerebellar slice cultures: a possible mechanism for paraneoplastic cerebellar degeneration in humans with gynecological or breast cancers. PloS One. 2015;10:e0123446.
pubmed: 25885452
pmcid: 4401511
doi: 10.1371/journal.pone.0123446
Schubert M, Panja D, Haugen M, Bramham CR, Vedeler CA. Paraneoplastic CDR2 and CDR2L antibodies affect Purkinje cell calcium homeostasis. Acta Neuropathol (Berl). 2014;128:835–52.
doi: 10.1007/s00401-014-1351-6
Panja D, Vedeler CA, Schubert M. Paraneoplastic cerebellar degeneration: Yo antibody alters mitochondrial calcium buffering capacity. Neuropathol Appl Neurobiol. 2019;45:141–56.
pubmed: 29679372
doi: 10.1111/nan.12492
Herdlevaer I, Kråkenes T, Schubert M, Vedeler CA. Localization of CDR2L and CDR2 in paraneoplastic cerebellar degeneration. Ann Clin Transl Neurol. 2020;7:2231–42.
pubmed: 33009713
pmcid: 7664253
doi: 10.1002/acn3.51212
Mitoma H, Song SY, Ishida K, Yamakuni T, Kobayashi T, Mizusawa H. Presynaptic impairment of cerebellar inhibitory synapses by an autoantibody to glutamate decarboxylase. J Neurol Sci. 2000;175:40–4.
pubmed: 10785255
doi: 10.1016/S0022-510X(00)00272-0
Hampe CS, Petrosini L, De Bartolo P, Caporali P, Cutuli D, Laricchiuta D, et al. Monoclonal antibodies to 65kDa glutamate decarboxylase induce epitope specific effects on motor and cognitive functions in rats. Orphanet J Rare Dis. 2013;8:82.
pubmed: 23738610
pmcid: 3680042
doi: 10.1186/1750-1172-8-82
Manto MU, Hampe CS, Rogemond V, Honnorat J. Respective implications of glutamate decarboxylase antibodies in stiff person syndrome and cerebellar ataxia. Orphanet J Rare Dis. 2011;6:3.
pubmed: 21294897
pmcid: 3042903
doi: 10.1186/1750-1172-6-3
Sabater L, Planagumà J, Dalmau J, Graus F. Cellular investigations with human antibodies associated with the anti-IgLON5 syndrome. J Neuroinflammation. 2016;13:226.
pubmed: 27586161
pmcid: 5007989
doi: 10.1186/s12974-016-0689-1
Patterson KR, Dalmau J, Lancaster E. Mechanisms of Caspr2 antibodies in autoimmune encephalitis and neuromyotonia. Ann Neurol. 2018;83:40–51.
pubmed: 29244234
pmcid: 5876120
doi: 10.1002/ana.25120
Saint-Martin M, Pieters A, Déchelotte B, Malleval C, Pinatel D, Pascual O, et al. Impact of anti-CASPR2 autoantibodies from patients with autoimmune encephalitis on CASPR2/TAG-1 interaction and Kv1 expression. J Autoimmun. 2019;103:102284.
pubmed: 31176559
doi: 10.1016/j.jaut.2019.05.012
Yaguchi H, Yabe I, Takahashi H, Watanabe M, Nomura T, Kano T, et al. Anti-Sez6l2 antibody detected in a patient with immune-mediated cerebellar ataxia inhibits complex formation of GluR1 and Sez6l2. J Neurol. 2018;265:962–5.
pubmed: 29423613
doi: 10.1007/s00415-018-8785-z
Crisp SJ, Dixon CL, Jacobson L, Chabrol E, Irani SR, Leite MI, et al. Glycine receptor autoantibodies disrupt inhibitory neurotransmission. Brain. 2019;142:3398–410.
pubmed: 31591639
pmcid: 6821286
doi: 10.1093/brain/awz297
Coesmans M, Smitt PAS, Linden DJ, Shigemoto R, Hirano T, Yamakawa Y, et al. Mechanisms underlying cerebellar motor deficits due to mGluR1-autoantibodies. Ann Neurol. 2003;53:325–36.
pubmed: 12601700
doi: 10.1002/ana.10451
Martín-García E, Mannara F, Gutiérrez-Cuesta J, Sabater L, Dalmau J, Maldonado R, et al. Intrathecal injection of P/Q type voltage-gated calcium channel antibodies from paraneoplastic cerebellar degeneration cause ataxia in mice. J Neuroimmunol. 2013;261:53–9.
pubmed: 23726906
doi: 10.1016/j.jneuroim.2013.05.003
Liao YJ, Safa P, Chen Y-R, Sobel RA, Boyden ES, Tsien RW. Anti-Ca2+ channel antibody attenuates Ca2+ currents and mimics cerebellar ataxia in vivo. Proc Natl Acad Sci U S A. 2008;105:2705–10.
pubmed: 18272482
pmcid: 2268200
doi: 10.1073/pnas.0710771105
Storstein A, Krossnes BK, Vedeler CA. Morphological and immunohistochemical characterization of paraneoplastic cerebellar degeneration associated with Yo antibodies. Acta Neurol Scand. 2009;120:64–7.
pubmed: 19486326
doi: 10.1111/j.1600-0404.2008.01138.x
Aye MM, Kasai T, Tashiro Y, Xing HQ, Shirahama H, Mitsuda M, et al. CD8 positive T-cell infiltration in the dentate nucleus of paraneoplastic cerebellar degeneration. J Neuroimmunol. 2009;208:136–40.
pubmed: 19217169
doi: 10.1016/j.jneuroim.2009.01.017
Ishida K, Mitoma H, Wada Y, Oka T, Shibahara J, Saito Y, et al. Selective loss of Purkinje cells in a patient with anti-glutamic acid decarboxylase antibody-associated cerebellar ataxia. J Neurol Neurosurg Psychiatry. 2007;78:190–2.
pubmed: 17119008
doi: 10.1136/jnnp.2006.091116
Piccolo G, Tavazzi E, Cavallaro T, Romani A, Scelsi R, Martino G. Clinico-pathological findings in a patient with progressive cerebellar ataxia, autoimmune polyendocrine syndrome, hepatocellular carcinoma and anti-GAD autoantibodies. J Neurol Sci. 2010;290:148–9.
pubmed: 20056249
doi: 10.1016/j.jns.2009.12.006
Albert ML, Darnell JC, Bender A, Francisco LM, Bhardwaj N, Darnell RB. Tumor-specific killer cells in paraneoplastic cerebellar degeneration. Nat Med. 1998;4:1321–4.
pubmed: 9809559
doi: 10.1038/3315
Carpenter EL, Vance BA, Klein RS, Voloschin A, Dalmau J, Vonderheide RH. Functional analysis of CD8+ T cell responses to the onconeural self protein cdr2 in patients with paraneoplastic cerebellar degeneration. J Neuroimmunol. 2008;193:173–82.
pubmed: 18053582
doi: 10.1016/j.jneuroim.2007.10.014
Costa M, Saiz A, Casamitjana R, Castañer MF, Sanmartí A, Graus F, et al. T-cell reactivity to glutamic acid decarboxylase in stiff-man syndrome and cerebellar ataxia associated with polyendocrine autoimmunity. Clin Exp Immunol. 2002;129:471–8.
pubmed: 12197888
pmcid: 1906483
doi: 10.1046/j.1365-2249.2002.01931.x
Albert ML, Austin LM, Darnell RB. Detection and treatment of activated T cells in the cerebrospinal fluid of patients with paraneoplastic cerebellar degeneration. Ann Neurol. 2000;47:9–17.
pubmed: 10632096
doi: 10.1002/1531-8249(200001)47:1<9::AID-ANA5>3.0.CO;2-I
Yshii LM, Gebauer CM, Pignolet B, Mauré E, Quériault C, Pierau M, et al. CTLA4 blockade elicits paraneoplastic neurological disease in a mouse model. Brain. 2016;139:2923–34.
pubmed: 27604307
doi: 10.1093/brain/aww225
Yshii L, Pignolet B, Mauré E, Pierau M, Brunner-Weinzierl M, Hartley O, et al. IFN-γ is a therapeutic target in paraneoplastic cerebellar degeneration. JCI Insight. 2019;4:127001.
pubmed: 30944244
doi: 10.1172/jci.insight.127001
Gaig C, Ercilla G, Daura X, Ezquerra M, Fernández-Santiago R, Palou E, et al. HLA and microtubule-associated protein tau H1 haplotype associations in anti-IgLON5 disease. Neurol - Neuroimmunol Neuroinflammation. 2019;6:e605.
doi: 10.1212/NXI.0000000000000605
Muñiz-Castrillo S, Ambati A, Dubois V, Vogrig A, Joubert B, Rogemond V, et al. Primary DQ effect in the association between HLA and neurological syndromes with anti-GAD65 antibodies. J Neurol. 2020;267:1906–11.
pubmed: 32152690
doi: 10.1007/s00415-020-09782-8
Hillary RP, Ollila HM, Lin L, Desestret V, Rogemond V, Picard G, et al. Complex HLA association in paraneoplastic cerebellar ataxia with anti-Yo antibodies. J Neuroimmunol. 2018;315:28–32.
pubmed: 29306402
doi: 10.1016/j.jneuroim.2017.12.012
Small M, Treilleux I, Couillault C, Pissaloux D, Picard G, Paindavoine S, et al. Genetic alterations and tumor immune attack in Yo paraneoplastic cerebellar degeneration. Acta Neuropathol (Berl). 2018;135:569–79.
doi: 10.1007/s00401-017-1802-y
Vialatte de Pémille C, Berzero G, Small M, Psimaras D, Giry M, Daniau M, et al. Transcriptomic immune profiling of ovarian cancers in paraneoplastic cerebellar degeneration associated with anti-Yo antibodies. Br J Cancer. 2018;119:105–13.
pubmed: 29899393
pmcid: 6035206
doi: 10.1038/s41416-018-0125-7
Rojas-Marcos I, Picard G, Chinchón D, Gelpi E, Psimaras D, Giometto B, et al. Human epidermal growth factor receptor 2 overexpression in breast cancer of patients with anti-Yo–associated paraneoplastic cerebellar degeneration. Neuro-Oncol. 2012;14:506–10.
pubmed: 22351748
pmcid: 3309857
doi: 10.1093/neuonc/nos006
Ribas A, Wolchok JD. Cancer immunotherapy using checkpoint blockade. Science. 2018;359:1350–5.
pubmed: 29567705
pmcid: 7391259
doi: 10.1126/science.aar4060
Postow MA, Sidlow R, Hellmann MD. Immune-related adverse events associated with immune checkpoint blockade. N Engl J Med. 2018;378:158–68.
pubmed: 29320654
doi: 10.1056/NEJMra1703481
Dubey D, David WS, Reynolds KL, Chute DF, Clement NF, Cohen JV, et al. Severe neurological toxicity of immune checkpoint inhibitors: growing spectrum. Ann Neurol. 2020;87:659–69.
pubmed: 32086972
doi: 10.1002/ana.25708
Yshii LM, Hohlfeld R, Liblau RS. Inflammatory CNS disease caused by immune checkpoint inhibitors: status and perspectives. Nat Rev Neurol. 2017;13:755–63.
pubmed: 29104289
doi: 10.1038/nrneurol.2017.144
Marini A, Bernardini A, Gigli GL, Valente M, Muñiz-Castrillo S, Honnorat J, et al. Neurologic adverse events of immune checkpoint inhibitors: a systematic review. Neurology. 2021;96:754–66.
pubmed: 33653902
doi: 10.1212/WNL.0000000000011795
Kao JC, Liao B, Markovic SN, Klein CJ, Naddaf E, Staff NP, et al. Neurological complications associated with anti-programmed death 1 (PD-1) antibodies. JAMA Neurol. 2017;74:1216–22.
pubmed: 28873125
pmcid: 5710300
doi: 10.1001/jamaneurol.2017.1912
Kawamura R, Nagata E, Mukai M, Ohnuki Y, Matsuzaki T, Ohiwa K, et al. Acute cerebellar ataxia induced by nivolumab. Intern Med Tokyo Jpn. 2017;56:3357–9.
doi: 10.2169/internalmedicine.8895-17
Naito T, Osaki M, Ubano M, Kanzaki M, Uesaka Y. Acute cerebellitis after administration of nivolumab and ipilimumab for small cell lung cancer. Neurol Sci Off J Ital Neurol Soc Ital Soc Clin Neurophysiol. 2018;39:1791–3.
Vitt JR, Kreple C, Mahmood N, Dickerson E, Lopez GY, Richie MB. Autoimmune pancerebellitis associated with pembrolizumab therapy. Neurology. 2018;91:91–3.
pubmed: 29875219
pmcid: 6053111
doi: 10.1212/WNL.0000000000005781
Zurko J, Mehta A. Association of Immune-Mediated Cerebellitis With Immune Checkpoint Inhibitor Therapy. Mayo Clin Proc Innov Qual Outcomes. 2018;2:74–7.
pubmed: 30225435
pmcid: 6124334
doi: 10.1016/j.mayocpiqo.2017.12.001
Saikawa H, Nagashima H, Maeda T, Maemondo M. Acute cerebellar ataxia due to Epstein-Barr virus under administration of an immune checkpoint inhibitor. BMJ Case Rep. 2019;12:e231520.
pubmed: 31892620
pmcid: 6954778
doi: 10.1136/bcr-2019-231520
Monteiro A, Gouveia E, Garcez D, Donato S, Martins-Branco D, Marques J, et al. Challenges of new approaches in metastatic merkel cell carcinoma. Case Rep Oncol. 2020;13:501–7.
pubmed: 32518545
pmcid: 7265742
doi: 10.1159/000507279
Vogrig A, Muñiz-Castrillo S, Joubert B, Picard G, Rogemond V, Marchal C, et al. Central nervous system complications associated with immune checkpoint inhibitors. J Neurol Neurosurg Psychiatry. 2020;91:772–8.
pubmed: 32312871
doi: 10.1136/jnnp-2020-323055
Iyer SG, Khakoo NS, Aitcheson G, Perez C. Case of anti-Zic4 antibody-mediated cerebellar toxicity induced by dual checkpoint inhibition in head and neck squamous cell carcinoma. BMJ Case Rep. 2020;13:e235607.
pubmed: 32943444
pmcid: 7500196
doi: 10.1136/bcr-2020-235607
Segal Y, Bukstein F, Raz M, Aizenstein O, Alcalay Y, Gadoth A 2021 PD-1-inhibitor-induced PCA-2 (MAP1B) autoimmunity in a patient with renal cell carcinoma. Cerebellum
Hardwick M, Nolan L, Nicoll JAR, Jogai S, Arriola E, Joseph-Pietras D, et al 2021 CD8 T-cell-mediated cerebellitis directed against Purkinje cell antigen after ipilimumab for small cell lung cancer. Neuropathol Appl Neurobiol