| Autor: |
Anamika Giri, Gamze Guven, Hasmet Hanagasi, Ann-Kathrin Hauser, Nihan Erginul-Unaltuna, Basar Bilgic, Hakan Gurvit, Peter Heutink, Thomas Gasser, Ebba Lohmann, Javier Simón-Sánchez |
| Jazyk: |
angličtina |
| Rok vydání: |
2016 |
| Předmět: |
|
| Zdroj: |
Tremor and Other Hyperkinetic Movements, Vol 6 (2016) |
| Druh dokumentu: |
article |
| ISSN: |
2160-8288 |
| 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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