Premium
Spinocerebellar ataxia type 2 presenting as familial levodopa‐responsive parkinsonism
Author(s) -
Shan DinE,
Soong BingWen,
Sun ChenMing,
Lee ShwnJen,
Liao KwongKum,
Liu RenShyan
Publication year - 2001
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10055
Subject(s) - parkinsonism , putamen , spinocerebellar ataxia , levodopa , dopaminergic , degenerative disease , trinucleotide repeat expansion , mutation , genetics , neuroscience , medicine , caudate nucleus , ataxia , central nervous system disease , parkinson's disease , psychology , biology , gene , disease , dopamine , allele
A genetic analysis identified 2 patients, approximately one‐tenth of our patients with familial parkinsonism, who had expanded trinucleotide repeats in SCA2 genes. The reduction of 18 F‐dopa distribution in both the putamen and caudate nuclei confirmed that the nigrostriatal dopaminergic system was involved in parkinsonian patients with SCA2 mutation.