A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism.

doi:10.1016/j.neulet.2016.05.011

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Article

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism.

Neuroscience letters - 15 Jun 2016

Chen Han, Huang Xiangjun, Yuan Lamei, Xia Hong, Xu Hongbo, Yang Yan, Zheng Wen, Deng Hao

Abstract excerpt

Autosomal recessive juvenile parkinsonism (AR-JP) is a distinct clinical and neuropathologic entity characterized by early onset parkinsonism and localized neuronal degeneration in the substantia nigra without Lewy bodies. The purpose of this study is to identify the genetic defect in a Chinese pedigree with familial AR-JP and to explore genotype-phenotype correlation. A three-generation Chinese Han pedigree with...

Topics

Adolescent
Adult
Asian People
Child
China
Exome
Female
Genotype
Homozygote
Humans
Male
Middle Aged
Mutation
Parkinsonian Disorders
Pedigree
Ubiquitin-Protein Ligases
Young Adult

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PMID: 27177722
DOI: 10.1016/j.neulet.2016.05.011

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