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- Title
Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder.
- Authors
Dayan, Roy; Shkedi Rafid, Shiri; Baker Erdman, Halen; Weill, Caroline; Shag, Avraham; Meiner, Vardiella; Arkadir, David
- Abstract
This article discusses a rare form of early-onset parkinsonism called RAB39B-associated parkinsonism. The study focuses on a family with 13 siblings, four of whom developed parkinsonism along with mild and non-progressive intellectual disability. The article describes the clinical features, genetic analysis, and response to treatment in these affected individuals. The study also highlights the association between neurodevelopmental disorders and neurodegenerative disorders, suggesting that RAB39B-associated parkinsonism may serve as a model for this association.
- Subjects
PARKINSONIAN disorders; MOVEMENT disorders; PATHOLOGY; LEWY body dementia; GENETIC mutation; SYMPTOMS
- Publication
Movement Disorders Clinical Practice, 2024, Vol 11, Issue 3, p306
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.13953