| Literature DB >> 18307262 |
Jürgen Andrich1, Larissa Arning, Stefan Wieczorek, Peter H Kraus, Ralf Gold, Carsten Saft.
Abstract
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5' part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of rare alleles between 27 and 35 CAG repeats with a higher risk for further expansion in subsequent generations. Here, we report a 75-year-old male with clinical features of HD and 34 CAG repeat units. (c) 2008 Movement Disorder Society.Entities:
Mesh:
Year: 2008 PMID: 18307262 DOI: 10.1002/mds.21958
Source DB: PubMed Journal: Mov Disord ISSN: 0885-3185 Impact factor: 10.338