Scientific Reports · 2018 · 13 citations · 18 references
Life SciencesGeneticsMolecular GeneticsMedical GeneticsNeurodegenerationNeurogeneticsMolecular NeurogeneticsMultiple System AtrophyNeurodegenerative DiseasesNeurodegenerative DisordersNeurogenetic DisordersSpinocerebellar AtaxiasExpansionFamilial Neurodegenerative DiseaseNeurodegenerative Disease CasesNeurodegenerative Disease MechanismsRepeat Expansion DisordersRepeat Expansion MutationsSpinocerebellar Ataxia Genetics
Abstract Multiple system atrophy (MSA) is a complex and multifactorial neurodegenerative disease, and its pathogenesis remains uncertain. Patients with MSA or spinocerebellar ataxia (SCA) show overlapping clinical phenotypes. Previous studies have reported that intermediate or long CAG expansions in SCA genes have been associated with other neurodegenerative disease. In this study, we screened for the number of CAG repeats in ATXN1 , 2 and 3 in 200 patients with MSA and 314 healthy controls to evaluate possible associations between (CAG) n in these three polyQ-related genes and MSA. Our findings indicated that longer repeat lengths in ATXN 2 were associated with increased risk for MSA in Chinese individuals. No relationship was observed between CAG repeat length in the three examined genes and age at onset (AO) of MSA.
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Second consensus statement on the diagnosis of multiple system atrophy
S. Gilman, Gregor K. Wenning, Phillip A. Low et al. · Neurology · 2008 · 3.2K citations · Full text
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
Andrew C. Elden, Hyung Jun Kim, Michael P. Hart et al. · Nature · 2010 · 1.3K citations