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

• Published in: Tremor and other hyperkinetic movements (New York, N.Y.) Vol. 6; p. 363
• Main Authors: Giri, Anamika, Guven, Gamze, Hanagasi, Hasmet, Hauser, Ann-Kathrin, Erginul-Unaltuna, Nihan, Bilgic, Basar, Gurvit, Hakan, Heutink, Peter, Gasser, Thomas, Lohmann, Ebba, Simón-Sánchez, Javier
• Format: Journal Article
• Language: English
• Published: Columbia University Libraries/Information Services 01.01.2016; Ubiquity Press
• Subjects: Brief Reports
• ISSN: 2160-8288; 2160-8288
• DOI: 10.7916/D81G0M12

BACKGROUNDPLA2G6-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. METHODSA 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. RESULTSIn 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. DISCUSSIONThis result supports the importance of prioritizing this gene in mutational analysis of autosomal recessive Parkinsonism, and confirms the clinical heterogeneity of PLAN.