2016 Data (Information)
Supplemental Data: PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism
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.
- PLA2G6_Mutations_Supplementary_Figures.pdf application/pdf 1.22 MB Download File
- PLA2G6_Mutations_Supplementary_Table_S1.csv text/csv 1010 Bytes Download File
- PLA2G6_Mutations_Supplementary_Table_S3.csv text/csv 5.19 KB Download File
- PLA2G6_Mutations_Supplementary_Table_S2.csv text/csv 3.22 KB Download File
More About This Work
- Academic Units
- Center for Parkinson's Disease and Other Movement Disorders
- Published Here
- March 7, 2016
This supplementary data is associated with the article "PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism" published in Tremor and Other Hyperkinetic Movements and available at http://dx.doi.org/10.7916/D81G0M12