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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 importance of prioritizing this gene in mutational analysis of autosomal recessive Parkinsonism, and confirms the clinical heterogeneity of PLAN.

SUBMITTER: Giri A 

PROVIDER: S-EPMC4811020 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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

Giri Anamika A   Guven Gamze G   Hanagasi Hasmet H   Hauser Ann-Kathrin AK   Erginul-Unaltuna Nihan N   Bilgic Basar B   Gurvit Hakan H   Heutink Peter P   Gasser Thomas T   Lohmann Ebba E   Simón-Sánchez Javier J  

Tremor and other hyperkinetic movements (New York, N.Y.) 20160316

<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h  ...[more]

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