Late onset Huntington's disease with 29 CAG repeat expansion
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- 作者：Pedro J. Garcia-Ruiza ; pgarcia@fjd.es" class="auth_mail" title="E-mail the corresponding author ; pgarciare@hotmail.com" class="auth_mail" title="E-mail the corresponding author ; Juan Garcia-Caldenteya ; Cici Feliza ; Javier del Vala ; Antonio Herranza ; Juan Carlos Martí ; nez-Castrillob
- 关键词：Late onset ; Huntington's disease ; intermediated alleles
- 刊名：Journal of the Neurological Sciences
- 出版年：2016
- 出版时间：15 April 2016
- 年：2016
- 卷：363
- 期：Complete
- 页码：114-115
- 全文大小：136 K
文摘
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Huntington's disease (HD) is associated with the expansion of (CAG) trinucleotide (> 36) at the coding region of the IT 15 gene.
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Individuals with 27–35 repeats may present late-onset HD.
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We present a patient with late onset HD and 29 triplet expansion.
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Genetic testing is crucial for proper diagnosis of patients with apparently sporadic senile chorea.