Article
Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients.
Movement disorders : official journal of the Movement Disorder Society - 15 Feb 2007
Modoni Anna, Contarino Maria Fiorella, Bentivoglio Anna Rita, Tabolacci Elisabetta, Santoro Massimo, Calcagni Maria Lucia, Tonali Pietro A, Neri Giovanni, Silvestri Gabriella
Abstract excerpt
We evaluated the prevalence of the SCA2 mutation among 224 Italian patients affected by typical Parkinsonism, including 145 sporadic and 79 familial forms. Pink1, Parkin, and LRRK2 gene mutations had been excluded previously. Molecular testing for the CAG expansion at the SCA 2 locus was performed on leukocyte DNA. Cloning and sequencing of the expanded allele was performed in patients positive for the SCA2...
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