Homozygous exon 4 deletion in parkin gene in a Korean family with autosomal recessive early onset parkinsonism.
The gene responsible for autosomal recessive parkinsonism, parkin, has recently been identified on chromosome 6q. It has been shown to be mutated in Japanese and European families, most of whom had early-onset parkinsonism. Here, we present a family with young-onset parkinsonism of an autosomal recessive inheritance. A homozygous exon 4 deletion in the parkin gene was found in 3 family members. To the best of the authors' knowledge, this is the first report in Korea of familial parkinsonism with the parkin gene mutation.
Kim
Joong-Seok
JS
Department of Neurology, Kangnam St. Mary Hospital, Catholic University of Korea, #505 Banpo-dong, Seocho-gu, Seoul 137-701, Korea.
Lee
Kwang-Soo
KS
Kim
Yeong-In
YI
Lee
Kwon-Haeng
KH
Kim
Hong-Tae
HT
D005091:Exons; D005260:Female; D017353:Gene Deletion; D005808:Genes, Recessive; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases