Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.
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.
Department of Neurology, Brain Research Institute, Niigata University, Japan.
M
M
Maruyama
T
T
Ikeuchi
M
M
Saito
A
A
Ishikawa
T
T
Yuasa
H
H
Tanaka
S
S
Hayashi
K
K
Wakabayashi
H
H
Takahashi
S
S
Tsuji
D000293:Adolescent; D000328:Adult; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D005799:Genes, Dominant / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008025:Ligases; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D020734:Parkinsonian Disorders / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D044767:Ubiquitin-Protein Ligases
D018389:Codon, Nonsense; D011506:Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases