Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients

• Published in: Neuroscience letters Vol. 678; pp. 37 - 42
• Main Authors: Mongelli, Alessia, Sarro, Lidia, Rizzo, Elena, Nanetti, Lorenzo, Meucci, Nicoletta, Pezzoli, Gianni, Goldwurm, Stefano, Taroni, Franco, Mariotti, Caterina, Gellera, Cinzia
• Format: Journal Article
• Language: English
• Published: Ireland Elsevier B.V 21.06.2018
• Subjects: Huntington disease; MSA; Polyglutamine disease; SCA; Spinocerebellar ataxia; Polyglutamine disease; SCA; MSA; Spinocerebellar ataxia; Huntington disease

•MSA phenotype shows a challenging overlap with dominant polyglutamine diseases.•Utility of polyQ genetic screening in Italian MSA population.•MSA-C had higher percentage of longer normal SCA1 alleles compared to other groups.•One MSA-C patient carried an expanded SCA2 allele, suggesting possible mi...