Huntington’s disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical.
A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients.
The most prevalent symptoms are ataxia, and two cases reported that tics as initial and prominent manifestation in JHD. Among them, 88% patients carried CAG repeats beyond 60 and most of them have family history. This case here illustrates the variable range of clinical symptoms of JHD and the necessity of testing for the HD mutation in young patients with tics with symptoms unable to be explained by Tourette’s syndrome (TS).
Sun YM, Zhang YB, Wu ZY. Huntington’s Disease: Relationship Between Phenotype and Genotype. Mol Neurobiol. 2017;54(1):342-8.
Hirschtritt ME, Lee PC, Dion Y, Grados MA, Illmann C, King RA, Sandor P, McMahon WM, Lyon GJ, Cath DC, Kurlan R, Robertson MM, Osiecki L, Scharf JM, Mathews CA. Tourette Syndrome Association International Consortium for Genetics. Lifetime prevalence, age of risk, and genetic relationships of comorbid psychiatric disorders in Tourette syndrome. JAMA Psychiatry. 2015 Apr;72(4):325–33. CrossRefPubMedPubMedCentral
Becker N, Munhoz RP, RaskinS WLC, Teive HA. Non-Choric Movement Disorders As Initial Manifestations of Huntington’s Disease. ArqNeuropsiquiatr. 2007;65(2-B):402–5.
Correia K, Harold D, Kim KH, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. The Genetic Modifiers of Motor Onset Age (GeM MOA) website: genome-wide association analysis for genetic modifiers of Huntington's disease. J Huntingtons Dis. 2015;4(3):279–84. CrossRefPubMedPubMedCentral
Simonin C, Duru C, Salleron J, Hincker P, Charles P, Delval A, Youssov K, Burnouf S, Azulay JP, Verny C, Scherer C, Tranchant C, Goizet C, Debruxelles S, Defebvre L, Sablonnière B, Romon-Rousseaux M, Buée L, Destée A, Godefroy O, Dürr A, Landwehrmeyer B, REGISTRY Study of the European Huntington's Disease Network, Bachoud-Levi AC, Richard F, Blum D, Krystkowiak P. Huntington French Speaking Network. Association between caffeine intake and age at onset in Huntington's disease. Neurobiol Dis. 2013 Oct;58:179–82. CrossRefPubMed
Squitieri F, Esmaeilzadeh M, Ciarmiello A, Jankovic J. Caudate glucose hypometabolism in a subject carrying an unstable allele of intermediate CAG repeat length in the Huntington’s disease gene. Mov Disord 2011;26:925–7.
Green JB, Dickinson ES, Gunderman JR. Epilepsy in Huntington’s chorea: clinical and neurophysiological studies. Adv Neurol. 1973;1:105–13.
Reinhold E. Schlagenhauff, P.K. Sethi. Electro-Clinical Findings in Huntington's Chorea. Clin Electroenceph. 1977;8:100–8. CrossRef
Milunsky JM, Maher TA, Loose BA, Darras BT, Ito M. XL PCR for the detection of large trinucleotide expansions in juvenile Huntington’s disease. Clin Genet 2003;64:70–73.
Heloísa H, Ruocco IL-C, Tiago L, Li LM, Cendes F. Clinical Presentation of juvenile Huntington disease. Arq Neuropsiquiatr. 2006;64(1):5–9. CrossRef
Reyes Molón L, Yáñez Sáez RM, López-Ibor Alcocer MI. Juvenile Huntington's disease: a case report and literature review. Actas Esp Psiquiatr. 2010 Sep-Oct;38(5):285–94. PubMed
Chuo YP, Hou PH, Chan CH, Lin CC, Liao YC. Juvenile Huntington's disease presenting as difficult-to-treat seizure and the first episode of psychosis. Gen Hosp Psychiatry. 2012 Jul-Aug;34(4):436.e9–11. CrossRef
- Tics as an initial manifestation of juvenile Huntington’s disease: case report and literature review
- BioMed Central
Neu in den Fachgebieten Neurologie und Psychiatrie
Meistgelesene Bücher in der Neurologie & Psychiatrie