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

Tremor and Other Hyperkinetic Movements

article

Anamika Giri¹  Gamze Guven³  Ann-Kathrin Hauser¹  Nihan Erginul-Unaltuna³  Basar Bilgic⁴  Hakan Gurvit⁴  Peter Heutink¹  Thomas Gasser¹  Ebba Lohmann¹  Javier Simón-Sánchez¹ 

[1] Hertie Institute for Clinical Brain Research, University of Tübingen;German Center for Neurodegenerative Diseases (DZNE)-Tübingen;Genetics Department, Institute for Experimental Medicine, Istanbul University;Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University

关键词: PLA2G6;    parkinsonism;    LRRK2;    DCNT1;   

DOI  :  10.5334/tohm.289

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

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.

【 授权许可】

CC BY