Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder

Mov Disord Clin Pract. 2024 Mar;11(3):306-308. doi: 10.1002/mdc3.13953. Epub 2024 Jan 31.

Authors

Roy Dayan¹, Shiri Shkedi Rafid², Halen Baker Erdman³, Caroline Weill¹, Avraham Shag², Vardiella Meiner², David Arkadir¹

Affiliations

¹ Department of Neurology, Hadassah Medical Center and the Faculty of Medicine, the Hebrew University, Jerusalem, Israel.
² Department of Genetics, Hadassah Medical Center and the Faculty of Medicine, The Hebrew University, Jerusalem, Israel.
³ The Edmond and Lily Safra Center for Brain Sciences, The Hebrew University, Jerusalem, Israel.

No abstract available

Keywords: Klinefelter syndrome; Parkinson's disease; RAB39B; deep brain stimulation.

Publication types

Letter

MeSH terms

Child
Developmental Disabilities / genetics
Humans
Male
Mutation
Parkinson Disease* / genetics
Parkinsonian Disorders* / diagnosis