Article
Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals.
Annals of neurology - 1 Dec 1998
Hattori N, Kitada T, Matsumine H, Asakawa S, Yamamura Y, Yoshino H, Kobayashi T, Yokochi M, Wang M, Yoritaka A, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y
Abstract excerpt
Autosomal recessive juvenile parkinsonism (AR-JP) is a distinct clinical and genetic entity characterized by selective degeneration of nigral dopaminergic neurons and young-onset parkinsonism with remarkable response to levodopa. Recently, we mapped the gene locus for AR-JP to chromosome 6q25.2-q...
Topics
- Amino Acid Sequence
- Base Sequence
- Exons
- Gene Deletion
- Genes, Recessive
- Homozygote
- Humans
- Japan
- Ligases
- Molecular Biology
- Molecular Sequence Data
- Parkinson Disease
- Pedigree
- Phenotype