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Huntington's disease as caused by 34 CAG repeats

✍ Scribed by Jürgen Andrich; Larissa Arning; Stefan Wieczorek; Peter H. Kraus; Ralf Gold; Carsten Saft

Book ID
102502084
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
112 KB
Volume
23
Category
Article
ISSN
0885-3185

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✦ Synopsis

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. © 2008 Movement Disorder Society

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## Abstract The objective of this study was to further explore the effect of CAG repeat length on the rate of clinical progression in patients with Huntington's disease. The dataset included records for 569 subjects followed prospectively at the Baltimore Huntington's Disease Center. Participants w