C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism

ConclusionsThe CAG‐expansion in ATXN2 likely caused the ataxia, whereas the dementia may be linked to both C9orf72 and ATXN2 repeat expansions. The pathological uninterrupted ATXN2 repeat may not have the same modifying effect as intermediate interrupted alleles. © 2016 International Parkinson and Movement Disorder Society.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1002%2Fmds.26841

Source: Movement Disorders - November 6, 2016 Category: Neurology Authors: Ming Zhang, Zhengrui Xi, Karen Misquitta, Christine Sato, Danielle Moreno, Yan Liang, Elizabeth Slow, Ekaterina Rogaeva, Maria Carmela Tartaglia Tags: Brief Report Source Type: research