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BMC neurology
Aug 08, 2017;17 (1): 152.

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

Shi-Shuang Cui, Ru-Jing Ren, Ying Wang, Gang Wang, Sheng-Di Chen
Author Information
  1. Shi-Shuang Cui: Department of Neurology & Neuroscience Institute, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
  2. Ru-Jing Ren: Department of Neurology & Neuroscience Institute, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
  3. Ying Wang: Department of Neurology & Neuroscience Institute, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China. wang-ying@medmail.com.cn.
  4. Gang Wang: Department of Neurology & Neuroscience Institute, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China. wgneuron@hotmail.com. ORCID
  5. Sheng-Di Chen: Department of Neurology & Neuroscience Institute, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
PMID: 28789621 DOI: 10.1186/s12883-017-0923-1

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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MeSH Term

Adolescent
Chorea
Humans
Huntington Disease
Male
Mutation
Tics
Tourette Syndrome
Trinucleotide Repeat Expansion
Case Reports Journal Article Review
Article has an altmetric score of 2

Word Cloud

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