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Article

PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease.

Neuroscience letters - 29 May 2018

Wang Peng, Guo Yi, Song Chengyuan, Liu Yiming, Deng Hao

Abstract excerpt

Parkinson's disease (PD) features selective loss of dopaminergic neurons of the substantia nigra pars compacta accompanied by the accumulation and aggregation of alpha-synuclein in Lewy bodies. PTEN induced putative kinase 1 gene (PINK1) mutations are the second most common genetic cause of autosomal recessive early-onset Parkinson's disease (EOPD). A single nucleotide deletion in PINK1 exon 8 (c.1557delG) was...

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Source

Identifiers

PMID: 29655942
DOI: 10.1016/j.neulet.2018.04.020

Genes

PINK1
PTEN

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