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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
Source :
Movement Disorders Clinical Practice; Mar2024, Vol. 11 Issue 3, p306-308, 3p
Publication Year :
2024

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. [Extracted from the article]

Details

Language :
English
ISSN :
23301619
Volume :
11
Issue :
3
Database :
Complementary Index
Journal :
Movement Disorders Clinical Practice
Publication Type :
Academic Journal
Accession number :
175989156
Full Text :
https://doi.org/10.1002/mdc3.13953