Article
Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review.
BMC neurology - 8 Aug 2017
Cui Shi-Shuang, Ren Ru-Jing, Wang Ying, Wang Gang, Chen Sheng-Di
Abstract excerpt
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...
Topics
- Adolescent
- Chorea
- Humans
- Huntington Disease
- Male
- Mutation
- Tics
- Tourette Syndrome
- Trinucleotide Repeat Expansion