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

Giri, Anamika; Guven, Gamze; Hanagasi, Hasmet; Hauser, Ann-Kathrin; Erginul-Unaltuna, Nihan; Bilgic, Basar; Gurvit, Hakan; Gasser, Thomas; Lohmann, Ebba; Heutink, Peter; Simon-Sanchez, Javier

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.

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Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D81G0M12

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Publisher
The Center for Digital Research and Scholarship
Published Here
November 2, 2016
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