Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.
SCA17
STUB1
TBP
digenic inheritance
intermediate trinucleotide expansions
Journal
Movement disorders : official journal of the Movement Disorder Society
ISSN: 1531-8257
Titre abrégé: Mov Disord
Pays: United States
ID NLM: 8610688
Informations de publication
Date de publication:
04 2023
04 2023
Historique:
revised:
12
01
2023
received:
25
10
2022
accepted:
27
01
2023
medline:
18
4
2023
pubmed:
18
2
2023
entrez:
17
2
2023
Statut:
ppublish
Résumé
Spinocerebellar ataxias (SCAs) are autosomal dominant disorders with extensive clinical and genetic heterogeneity. We recently identified a form of SCA transmitted with a digenic pattern of inheritance caused by the concomitant presence of an intermediate-length expansion in TATA-box binding protein gene (TBP We studied a large cohort of patients with SCA In this observational study, we recruited 65 affected and unaffected family members from 21 SCA SCA The identification of the complex SCA
Sections du résumé
BACKGROUND AND OBJECTIVES
Spinocerebellar ataxias (SCAs) are autosomal dominant disorders with extensive clinical and genetic heterogeneity. We recently identified a form of SCA transmitted with a digenic pattern of inheritance caused by the concomitant presence of an intermediate-length expansion in TATA-box binding protein gene (TBP
OBJECTIVES
We studied a large cohort of patients with SCA
METHODS
In this observational study, we recruited 65 affected and unaffected family members from 21 SCA
RESULTS
SCA
CONCLUSIONS
The identification of the complex SCA
Substances chimiques
STUB1 protein, human
EC 2.3.2.27
TATA-Box Binding Protein
0
TBP protein, human
0
Ubiquitin-Protein Ligases
EC 2.3.2.27
Types de publication
Observational Study
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
665-675Informations de copyright
© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Références
Klockgether T, Mariotti C, Paulson HL. Spinocerebellar ataxia. Nat Rev Dis Primers 2019;5:24.
Magri S, Nanetti L, Gellera C, et al. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. Genet Med 2022;24:29-40.
Genis D, Ortega-Cubero S, San Nicolás H, et al. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). Neurology 2018;91(21):1988-1998.
Koide R, Kobayashi S, Shimohata T, et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 1999;8:2047-2053.
Shi CH, Schisler JC, Rubel CE, et al. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet 2014;23:1013-1024.
Fujigasaki H, Martin J-J, De Deyn PP, et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 2001;124:1939-1947.
Nakamura K, Jeong SY, Uchihara T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 2001;10:1441-1448.
Maltecca F, Filla A, Castaldo I, et al. Intergenerational instability and marked anticipation in SCA-17. Neurology 2003;61:1441-1443.
Rolfs A, Koeppen AH, Bauer I, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003;54:367-375.
Mariotti C, Alpini D, Fancellu R, et al. Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. J Neurol 2007;254:1538-1546.
Günther P, Storch A, Schwarz J, et al. Basal ganglia involvement of a patient with SCA 17. J Neurol 2004;251:896-897.
Craig K, Keers SM, Walls TJ, et al. Minimum prevalence of spinocerebellar ataxia 17 in the north east of England. J Neurol Sci 2005;239:105-109.
Bonomo R, Latorre A, Bhatia KP. Self-injurious behaviour in SCA17: a new clinical observation. Tremor Other Hyperkinet Mov 2019;9. doi:10.7916/tohm.v0.672.eCollection2019
Rasmussen A, De Biase I, Fragoso-Benítez M, et al. Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Ann Neurol 2007;61:607-610.
Oda M, Maruyama H, Komure O, et al. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. Arch Neurol 2004;61:209-212.
Zühlke C, Hellenbroich Y, Dalski A, et al. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Eur J Hum Genet 2001;9:160-164.
Zühlke C, Gehlken U, Hellenbroich Y, et al. Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17? J Neurol 2003;250:161-163.
Zühlke C, Dalski A, Schwinger E, Finckh U. Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes. BMC Med Genet 2005;6:27.
Silveira I, Miranda C, Guimarães L, et al. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG) n allele at the SCA17 locus. Arch Neurol 2002;59:623.
Brusco A, Gellera C, Cagnoli C, et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 2004;61:727-733.
Nanda A, Jackson SA, Schwankhaus JD, Metzer WS. Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. Mov Disord 2007;22:436.
Nolte D, Sobanski E, Wissen A, et al. Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene. J Neurol Neurosurg Psychiatry 2010;81:1396-1399.
Tremolizzo L, Curtò NA, Marzorati L, et al. Early-onset SCA17 with 43 TBP repeats: expanding the phenotype? Neurol Sci 2011;32:941-943.
Herrema H, Mikkelsen T, Robin A, et al. SCA 17 phenotype with intermediate triplet repeat number. J Neurol Sci 2014;345:269-270.
Origone P, Gotta F, Lamp M, et al. Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. Cerebellum Ataxias 2018;5:7.
Stevanin G, Fujigasaki H, Lebre A-S, et al. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. J Neurol 2003;126:1599-1603.
Bauer P, Laccone F, Rolfs A, et al. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet 2004;41:230-232.
Toyoshima Y, Yamada M, Onodera O, et al. SCA17 homozygote showing Huntington's disease-like phenotype. Ann Neurol 2004;55:281-286.
Cellini E, Forleo P, Nacmias B, et al. Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia. Ann Neurol 2004;56:163.
Bech S, Petersen T, Nørremølle A, et al. Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation. Parkinsonism Relat Disord 2010;16:12-15.
Loy CT, Sweeney MG, Davis MB, et al. Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. Mov Disord 2005;20:1521-1523.
Alibardi A, Squitieri F, Fattapposta F, et al. Psychiatric onset and late chorea in a patient with 41 CAG repeats in the TATA-binding protein gene. Parkinsonism Relat Disord 2014;20:678-679.
Park H, Jeon BS, Shin JH, Park S-H. A patient with 41 CAG repeats in SCA17 presenting with parkinsonism and chorea. Parkinsonism Relat Disord 2016;22:106-107.
Shin JH, Park H, Ehm GH, et al. The pathogenic role of low range repeats in SCA17. PloS One 2015;10:e0135275.
Nethisinghe S, Lim WN, Ging H, et al. Complexity of the genetics and clinical presentation of spinocerebellar ataxia 17. Front Cell Neurosci 2018;12:429.
Choubtum L, Witoonpanich P, Kulkantrakorn K, et al. Trinucleotide repeat expansion of TATA-binding protein gene associated with Parkinson's disease: a Thai multicenter study. Parkinsonism Relat Disord 2016;28:146-149.
Nigri A, Sarro L, Mongelli A, et al. Spinocerebellar ataxia type 1: one-year longitudinal study to identify clinical and MRI measures of disease progression in patients and Presymptomatic carriers. Cerebellum 2022;21:133-144.
Hire RR, Katrak SM, Vaidya S, et al. Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions. Clin Genet 2011;80:472-477.
Nielsen TT, Mardosiene S, Løkkegaard A, et al. Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report. BMC Neurol 2012;12:73.
Watanabe M, Monai N, Jackson M, et al. A small trinucleotide expansion in the TBP gene gives rise to a sporadic case of SCA17 with abnormal putaminal findings on MRI. Intern Med Tokyo Jpn 2008;47:2179-2182.
Nanetti L, Contarino VE, Castaldo A, et al. Cortical thickness, stance control, and arithmetic skill: an exploratory study in premanifest Huntington disease. Parkinsonism Relat Disord 2018;51:17-23.
Romero JE, Coupé P, Giraud R, et al. CERES: a new cerebellum lobule segmentation method. Neuroimage 2017;147:916-924.
Roux T, Barbier M, Papin M, et al. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. Genet Med 2020;22:1851-1862.
Cocozza S, Pontillo G, De Michele G, et al. The "crab sign": an imaging feature of spinocerebellar ataxia type 48. Neuroradiology 2020;62:1095-1103.
Jana NR, Dikshit P, Goswami A, et al. Co-chaperone CHIP associates with expanded polyglutamine protein and promotes their degradation by proteasomes. J Biol Chem 2005;280:11635-11640.
Miller VM, Nelson RF, Gouvion CM, et al. CHIP suppresses polyglutamine aggregation and toxicity in vitro and in vivo. J Neurosci 2005;25:9152-9161.
Pakdaman Y, Berland S, Bustad HJ, et al. Genetic dominant variants in STUB1, segregating in families with SCA48, display In vitro functional impairments indistinctive from recessive variants associated with SCAR16. Int J Mol Sci 2021;22:5870.
Reis MC, Patrun J, Ackl N, et al. A severe dementia syndrome caused by intron retention and cryptic splice site activation in STUB1 and exacerbated by TBP repeat expansions. Front Mol Neurosci 2022;15:878236.
Saito R, Tada Y, Oikawa D, et al. Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient. Acta Neuropathol Commun 2022;10:177-186.
Barbier M, Davoine CS, Petit E, et al. Intermediate repeat expansions of TBP and STUB1: genetic modifier or pure digenic inheritance in spinocerebellar ataxias? Genet Med 2023;25:100327.
Schmahmann JD, Sherman JC. The cerebellar cognitive affective syndrome. Brain 1998;121:561-579.
Reetz K, Costa AS, Mirzazade S, et al. Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. Brain 2013;136:905-917.
Schmitz-Hübsch T, Lux S, Bauer P, et al. Spinocerebellar ataxia type 14: refining clinic genetic diagnosis in a rare adult-onset disorder. Ann Clin Transl Neurol 2021;8:774-789.