Article
Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families.
European neurology - 1 Jan 2000
Filla A, Mariotti C, Caruso G, Coppola G, Cocozza S, Castaldo I, Calabrese O, Salvatore E, De Michele G, Riggio M C, Pareyson D, Gellera C, Di Donato S
Abstract excerpt
Two hundred and forty-eight patients from 116 Italian families with dominant ataxia were studied for CAG expansion within SCA1, 2, 3, 6, 7 (spinocerebellar ataxia) and DRPLA (dentatorubropallidoluysian atrophy) genes. Fifty-six percent of the families originated from Southern, 19% from Central and 25% from Northern Italy. SCA2 was the commonest mutation, accounting for 47% of the families, followed by SCA1 (24%),...
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