Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.

Anna I WernickRonald L WaltonAlexandra I Soto-BeasleyShunsuke KogaMichael G HeckmanRebecca R ValentinoLukasz M MilanowskiDorota Hoffman-ZacharskaDariusz KoziorowskiAnhar HassanRyan J UittiWilliam P CheshireWolfgang SingerZbigniew K WszolekDennis W DicksonPhillip A LowOwen A Ross

Published in: Clinical autonomic research : official journal of the Clinical Autonomic Research Society (2021)

Occurrence of TBP CAG/CAA repeat length of longer alleles (> 38 repeats) is significantly associated with increased multiple system atrophy risk. This discovery warrants further investigation and supports a possible genetic overlap of multiple system atrophy with SCA17.

Keyphrases

small molecule
risk assessment
genome wide
gene expression
copy number
dna methylation
single cell