PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.

ABSTRACT:

Background

PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia-parkinsonism.

Methods

A consanguineous index case from Turkey was diagnosed with early-onset Parkinsonism at the Istanbul Faculty of Medicine. She and her unaffected brother were subjected to whole-genome sequencing.

Results

In this report, we describe a 33-year-old index case with parental consanguinity and early-onset Parkinsonism. Whole-genome sequencing of this individual revealed that a homozygous p.R747W mutation in PLA2G6 segregates with the disease in this family.

Discussion

This result supports the imp

SUBMITTER: Giri A 

PROVIDER: S-EPMC4811020 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature