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Novel mutations, pseudo‐dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism
Author(s) -
Maruyama Mieko,
Ikeuchi Takeshi,
Saito Masaaki,
Ishikawa Atsushi,
Yuasa Tatsuhiko,
Tanaka Hajime,
Hayashi Shintaro,
Wakabayashi Koichi,
Takahashi Hitoshi,
Tsuji Shoji
Publication year - 2000
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 - 10.1002/1531-8249(200008)48:2<245::aid-ana15>3.0.co;2-2
Subject(s) - genetics , inheritance (genetic algorithm) , parkinsonism , juvenile , biology , mutation , pedigree chart , gene , medicine , disease
Autosomal recessive juvenile parkinsonism is a hereditary neurodegenerative disorder, usually beginning before the age of 40. We found three exonic deletions and two novel point mutations (Arg33Stop and Cys431Phe) in six families with autosomal recessive juvenile parkinsonism. In 1 family, in which an autosomal dominant mode of inheritance was suspected, multiple mutant alleles were identified. Although a wide range of ages at onset was observed, there was no correlation between age at onset and genotype. Ann Neurol 2000;48:245–250