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Article

Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism.

Journal of medical genetics - 1 Jul 2016

Sudhaman Sumedha, Prasad Kameshwar, Behari Madhuri, Muthane Uday B, Juyal Ramesh C, Thelma B K

Abstract excerpt

BACKGROUND: Mutations in known genes for inherited forms of Parkinson's disease (PD) account for <30% of familial PD (FPD) implying that more causal gene(s) remain to be identified. We attempted to discover the putative causal variant in an Indian family with autosomal-recessive juvenile Parkinsonism (ARJP), tested negative for mutations in PARK2, PINK1 and DJ1. METHODS: Whole exomes of two affected siblings were...

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Source

Identifiers

PMID: 26864383
DOI: 10.1136/jmedgenet-2015-103459

Genes

PODXL
PINK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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