PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism
| Autor: | Giri, Anamika, Guven, Gamze, Hanagasi, Hasmet, Hauser, Ann-Kathrin, Erginul-Unaltuna, Nihan, Bilgic, Basar, Gurvit, Hakan, Gasser, Thomas, Lohmann, Ebba, Heutink, Peter, Simon-Sanchez, Javier |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Tremor and other hyperkinetic movements 6, 1-6 (2016). doi:10.7916/D81G0M12 Tremor and Other Hyperkinetic Movements Tremor and Other Hyperkinetic Movements, Vol 6 (2016) |
| DOI: | 10.7916/d81g0m12 |
| Popis: | 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. Tremor and Other Hyperkinetic Movements, Tremor and Other Hyperkinetic Movements |
| Databáze: | OpenAIRE |
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