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ABSTRACT:
SUBMITTER: Matsumine H
PROVIDER: S-EPMC1712507 | biostudies-literature | 1997 Mar
REPOSITORIES: biostudies-literature
Matsumine H H Saito M M Shimoda-Matsubayashi S S Tanaka H H Ishikawa A A Nakagawa-Hattori Y Y Yokochi M M Kobayashi T T Igarashi S S Takano H H Sanpei K K Koike R R Mori H H Kondo T T Mizutani Y Y Schäffer A A AA Yamamura Y Y Nakamura S S Kuzuhara S S Tsuji S S Mizuno Y Y
American journal of human genetics 19970301 3
An autosomal recessive form of juvenile Parkinsonism (AR-JP) (MIM 600116) is a levodopa-responsive Parkinsonism whose pathological finding is a highly selective degeneration of dopaminergic neurons in the zona compacta of the substantia nigra. By linkage analysis of diallelic polymorphism of the Mn-superoxide dismutase gene (SOD2), we found a family with AR-JP showing perfect segregation of the disease with the SOD2 locus. By extending the linkage analysis to 13 families with AR-JP, we discovere ...[more]