%0 Journal Article
%T Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis
%A Alessandro Brussino
%A Alessandro Filla
%A Alfredo Brusco
%A Caterina Mariotti
%A Cecilia Mancini
%A Cinzia Gellera
%A Claudia Cagnoli
%A Eleonora Di Gregorio
%A Elisa Giorgio
%A Elisa Pozzi
%A Giovanni Stevanin
%A Giuseppe De Michele
%A Laura Orsi
%A Marina Ferrone
%A Marta Ferrero
%A Paola Giunti
%A Paola Salmin
%A Patrizia Pappi
%A Simona Cavalieri
%A Suran Nethisinghe
%J The Journal of Molecular Diagnostics
%D 2018
%R 10.1016/j.jmoldx.2017.12.006
%X Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, and 7, associated with a (CAG)n repeat
expansion in coding sequences, are the most prevalent autosomal dominant ataxias worldwide
(approximately 60% of the cases). In addition, the phenotype of SCA2 expansions has
been now extended to Parkinson disease and amyotrophic lateral sclerosis. Their diagnosis
is currently based on a PCR to identify small expanded alleles, followed by a second-level
test whenever a false normal homozygous or a CAT interruption in SCA1 needs to be
verified.
%U https://jmd.amjpathol.org/article/S1525-1578(17)30389-6/fulltext