Journal Article

DZNE-2020-07759

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.

Giri, A. (First author)DZNE* ; Guven, G. ; Hanagasi, H. ; Hauser, A.-K. ; Erginul-Unaltuna, N. ; Bilgic, B. ; Gurvit, H. ; Heutink, P.DZNE* ; Gasser, T.DZNE* ; Lohmann, E. (Corresponding author)DZNE* ; Simon Sanchez, J. (Last author)DZNE*

2016
Center for Digital Research and Scholarship New York, NY

This record in other databases:    

Please use a persistent id in citations: doi:10.7916/D81G0M12  doi:10.5334/tohm.289

Abstract: 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.

---

Contributing Institute(s):

1. Genome Biology of Neurodegenerative Diseases (AG Heutink)
2. Parkinson Genetics (AG Gasser)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2016

---

Database coverage:
; ; ; ; Article Processing Charges ; Clarivate Analytics Master Journal List ; DOAJ Seal ; Emerging Sources Citation Index ; Fees ; IF < 5 ; JCR ; PubMed Central ; Web of Science Core Collection

---