Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions

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• 作者：John Robin Highley ; Alejandro Lorente Pons ; Johnathan Cooper-Knock ; Stephen B. Wharton ; Paul G. Ince ; Pamela J. Shaw ; Jon Wood and Janine Kirby
• 刊名：Neuropathology and Applied Neurobiology
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：42
• 期：4
• 页码：377-389
• 全文大小：22309K
• ISSN：1365-2990

文摘

Intermediate-length cytosine-adenine-guanine repeat expansions in the ATXN2 gene (which encodes for Ataxin-2 protein) have been linked to increased risk for motor neurone disease/amyotrophic lateral sclerosis (ALS). We screened DNA from cases for which we had post-mortem brain tissue to enable characterization of the neuropathology associated with this mutation.