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

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. A consanguineous index case from Turkey wa...

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Veröffentlicht in:Tremor and other hyperkinetic movements (New York, N.Y.) Jg. 6; S. 363
Hauptverfasser: 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
Sprache:Englisch
Veröffentlicht: United States Columbia University Libraries/Information Services 16.03.2016
Ubiquity Press
Schlagworte:
Brief Reports
DCNT1
parkinsonism
PLA2G6
LRRK2
ISSN:2160-8288, 2160-8288
Online-Zugang:Volltext
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Zusammenfassung: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. 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. 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. This result supports the importance of prioritizing this gene in mutational analysis of autosomal recessive Parkinsonism, and confirms the clinical heterogeneity of PLAN.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:2160-8288
2160-8288
DOI:10.7916/D81G0M12