Differential Diagnosis of Chorea-HIV Infection Delays Diagnosis of Huntington's Disease by Years.
ENROLL-HD
Huntington’s disease
clinical expression
human immunodeficiency virus infection
Journal
Brain sciences
ISSN: 2076-3425
Titre abrégé: Brain Sci
Pays: Switzerland
ID NLM: 101598646
Informations de publication
Date de publication:
27 May 2021
27 May 2021
Historique:
received:
03
04
2021
revised:
20
05
2021
accepted:
25
05
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
3
6
2021
Statut:
epublish
Résumé
There is a broad range of potential differential diagnoses for chorea. Besides rare, inherited neurodegenerative diseases such as Huntington's disease (HD) chorea can accompany basal ganglia disorders due to vasculitis or infections, e.g., with the human immunodeficiency virus (HIV). The clinical picture is complicated by the rare occurrence of HIV infection and HD. First, we present a case suffering simultaneously from HIV and HD (HIV/HD) focusing on clinical manifestation and disease onset. We investigated cross-sectional data regarding molecular genetic, motoric, cognitive, functional, and psychiatric disease manifestation of HIV/HD in comparison to motor-manifest HD patients without HIV infection (nonHIV/HD) in the largest cohort of HD patients worldwide using the registry study ENROLL-HD. Data were analyzed using ANCOVA analyses controlling for covariates of age and CAG repeat length between groups in IBM SPSS Statistics V.25. The HD diagnosis in our case report was delayed by approximately nine years due to the false assumption that the HIV infection might have been the cause of chorea. Out of The HD diagnosis in HIV-infected male patients is secured with a diagnostic delay between first symptoms noticed by the patient and final diagnosis. Treating physicians therefore should be sensitized to think of potential alternative diagnoses in HIV-infected patients also afflicted by movement disorders, especially if there is evidence of subcortical atrophy and a history of hyperkinesia, even without a clear HD-family history. Those patients should be transferred for early genetic testing to avoid further unnecessary diagnostics and improve sociomedical care.
Sections du résumé
BACKGROUND
BACKGROUND
There is a broad range of potential differential diagnoses for chorea. Besides rare, inherited neurodegenerative diseases such as Huntington's disease (HD) chorea can accompany basal ganglia disorders due to vasculitis or infections, e.g., with the human immunodeficiency virus (HIV). The clinical picture is complicated by the rare occurrence of HIV infection and HD.
METHODS
METHODS
First, we present a case suffering simultaneously from HIV and HD (HIV/HD) focusing on clinical manifestation and disease onset. We investigated cross-sectional data regarding molecular genetic, motoric, cognitive, functional, and psychiatric disease manifestation of HIV/HD in comparison to motor-manifest HD patients without HIV infection (nonHIV/HD) in the largest cohort of HD patients worldwide using the registry study ENROLL-HD. Data were analyzed using ANCOVA analyses controlling for covariates of age and CAG repeat length between groups in IBM SPSS Statistics V.25.
RESULTS
RESULTS
The HD diagnosis in our case report was delayed by approximately nine years due to the false assumption that the HIV infection might have been the cause of chorea. Out of
CONCLUSIONS
CONCLUSIONS
The HD diagnosis in HIV-infected male patients is secured with a diagnostic delay between first symptoms noticed by the patient and final diagnosis. Treating physicians therefore should be sensitized to think of potential alternative diagnoses in HIV-infected patients also afflicted by movement disorders, especially if there is evidence of subcortical atrophy and a history of hyperkinesia, even without a clear HD-family history. Those patients should be transferred for early genetic testing to avoid further unnecessary diagnostics and improve sociomedical care.
Identifiants
pubmed: 34071882
pii: brainsci11060710
doi: 10.3390/brainsci11060710
pmc: PMC8229235
pii:
doi:
Types de publication
Journal Article
Langues
eng
Références
Sci Rep. 2017 Jul 10;7(1):4947
pubmed: 28694434
J Med Genet. 1988 Sep;25(9):589-95
pubmed: 2972838
PLoS One. 2011 Jan 31;6(1):e16172
pubmed: 21297955
Exp Neurol. 2016 Nov;285(Pt A):12-23
pubmed: 27587303
Neurol Clin. 2018 Nov;36(4):751-765
pubmed: 30366553
Mov Disord. 2013 Jul;28(8):1142-5
pubmed: 23495076
Front Immunol. 2019 Mar 04;10:362
pubmed: 30886620
Antioxidants (Basel). 2020 Nov 20;9(11):
pubmed: 33233546
Handb Clin Neurol. 2011;100:323-34
pubmed: 21496592
Brain Behav. 2020 Aug;10(8):e01704
pubmed: 32530575
Mol Neurodegener. 2014 Nov 15;9:49
pubmed: 25398321
Infect Dis Clin North Am. 2019 Sep;33(3):835-855
pubmed: 31255382
Clin Dev Immunol. 2013;2013:541259
pubmed: 23956761
Brain Sci. 2021 Mar 25;11(4):
pubmed: 33805940
Handb Clin Neurol. 2018;147:105-123
pubmed: 29325606
CNS Drugs. 2002;16(10):663-8
pubmed: 12269860
Top Antivir Med. 2011 Nov;19(4):137-42
pubmed: 22156215
J Neurol. 2017 Aug;264(8):1715-1727
pubmed: 28567537
Nat Rev Immunol. 2005 Jan;5(1):69-81
pubmed: 15630430
J Neurochem. 2019 Jun;149(5):562-581
pubmed: 30702751
J Neuroimmune Pharmacol. 2013 Mar;8(1):118-31
pubmed: 22527632
Neurol Neuroimmunol Neuroinflamm. 2019 Apr 04;6(3):e551
pubmed: 31119186
Lancet HIV. 2020 Feb;7(2):e129-e140
pubmed: 31776098
JAMA. 1993 May 12;269(18):2386-91
pubmed: 8479064
Nihon Rinsho. 1999 Apr;57(4):905-11
pubmed: 10222788
Brain Sci. 2020 Jun 03;10(6):
pubmed: 32503138
Semin Neurol. 1999;19(2):113-27
pubmed: 10718533
J Neuroinflammation. 2019 Sep 13;16(1):180
pubmed: 31519175
J Virus Erad. 2020 Feb 20;6(1):27-29
pubmed: 32175088
Handb Clin Neurol. 2018;152:3-19
pubmed: 29604982
Lancet Neurol. 2017 Jan;16(1):88-96
pubmed: 27979358
Arq Bras Oftalmol. 2008 Sep-Oct;71(5):717-8
pubmed: 19039470
EMBO J. 2019 May 2;38(9):
pubmed: 30886048
Drug Discov Today. 2014 Jul;19(7):985-9
pubmed: 24657309
Hum Mol Genet. 2014 May 1;23(9):2251-65
pubmed: 24301680
AIDS Patient Care STDS. 2018 Oct;32(10):418-424
pubmed: 30277814
Int J Mol Sci. 2020 Dec 23;22(1):
pubmed: 33374679
Nutrients. 2017 Nov 21;9(11):
pubmed: 29160817
Int J STD AIDS. 2016 Jan;27(1):75-7
pubmed: 25505048
J Clin Med. 2021 Feb 11;10(4):
pubmed: 33670229
Glia. 2002 Nov;40(2):240-51
pubmed: 12379911
Orphanet J Rare Dis. 2010 Dec 20;5:40
pubmed: 21171977
J Huntingtons Dis. 2018;7(2):163-166
pubmed: 29843248
Nutr Clin Pract. 2008 Feb;23(1):35-41
pubmed: 18203962
J Huntingtons Dis. 2017;6(4):327-335
pubmed: 28984613
Annu Rev Neurosci. 1996;19:1-26
pubmed: 8833434
Clin Infect Dis. 2010 Mar 15;50(6):920-9
pubmed: 20146627
Exp Neurol. 2014 Nov;261:685-97
pubmed: 25150097
BMC Neurol. 2006 Feb 28;6:11
pubmed: 16507108
CNS Neurol Disord Drug Targets. 2016;15(4):414-33
pubmed: 26996176
J Infect Dis. 2002 Dec 1;186 Suppl 2:S193-8
pubmed: 12424697
Expert Rev Anti Infect Ther. 2014 Jul;12(7):783-91
pubmed: 24745361
Handb Clin Neurol. 2017;144:113-126
pubmed: 28947110
Handb Clin Neurol. 2017;144:3-14
pubmed: 28947123
Int J Mol Sci. 2020 Mar 31;21(7):
pubmed: 32244523
Ann N Y Acad Sci. 2010 Feb;1187:122-8
pubmed: 20201849
Lancet. 2007 Jan 20;369(9557):218-28
pubmed: 17240289
J Clin Pharm Ther. 2021 Apr;46(2):304-309
pubmed: 33247860
J Int AIDS Soc. 2014 Nov 02;17(4 Suppl 3):19655
pubmed: 25394159
J Neuroinflammation. 2017 Mar 11;14(1):51
pubmed: 28284222
Lancet. 2006 Aug 5;368(9534):489-504
pubmed: 16890836
CNS Neurol Disord Drug Targets. 2014;13(9):1571-9
pubmed: 25106633
Rehabil Psychol. 2020 May;65(2):113-121
pubmed: 31961169
Neurol Clin. 1998 Feb;16(1):83-105
pubmed: 9421542
Neurologia. 2009 May;24(4):279
pubmed: 19950424
Pract Neurol. 2015 Feb;15(1):80-4
pubmed: 25169240
J Neural Transm (Vienna). 2004 Oct;111(10-11):1485-94
pubmed: 15480847