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Review
. 2017 Aug 8;17(1):152.
doi: 10.1186/s12883-017-0923-1.

Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review

Shi-Shuang Cui  1 , Ru-Jing Ren  1 , Ying Wang  2 , Gang Wang  3 , Sheng-Di Chen  1
Affiliations
Review

Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review

Shi-Shuang Cui et al. BMC Neurol. .

Abstract

Background: 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.

Case presentation: 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.

Conclusion: 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).

Keywords: Case report; Juvenile Huntington’s disease; Literature review; Tics.

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Conflict of interest statement

Ethics approval and consent to participate

The study was approved by the medical ethics committee of RuiJin Hospital affiliated to Shanghai Jiao Tong University School of Medicine.

Consent for publication

Written informed consent was obtained from the patient’s parent for publication of this case report.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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