Homozygous Exon 4 Deletion in Parkin Gene in a Korean Family with Autosomal Recessive Early Onset Parkinsonism.
10.3349/ymj.2003.44.2.336
- Author:
Joong Seok KIM
1
;
Kwang Soo LEE
;
Yeong In KIM
;
Kwon Haeng LEE
;
Hong Tae KIM
Author Information
1. Department of Neurology, Kangnam St. Mary Hospital, #505, Banpo-dong, Seocho-gu, Seoul 137-701, Korea. ks1007@cmc.cuk.ac.kr
- Publication Type:Case Report
- Keywords:
Autosomal recessive juvenile parkinsonism;
parkin;
familial;
mutation;
exon
- MeSH:
*Exons;
Female;
*Gene Deletion;
Genes, Recessive;
Human;
Ligases/*genetics;
Middle Aged;
Parkinsonian Disorders/*genetics;
*Ubiquitin-Protein Ligases
- From:Yonsei Medical Journal
2003;44(2):336-339
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
