Novel RAB39B loss-of-function mutation in patient with typical early-onset Parkinson's disease

Jessie R Jacobson; Capucine Piat; Allen J Aksamit; Gaia Patane'; Owen A Ross; Rodolfo Savica

doi:10.1016/j.parkreldis.2024.106038

Novel RAB39B loss-of-function mutation in patient with typical early-onset Parkinson's disease

Parkinsonism Relat Disord. 2024 Jun:123:106038. doi: 10.1016/j.parkreldis.2024.106038. Epub 2024 Feb 13.

Authors

Jessie R Jacobson¹, Capucine Piat¹, Allen J Aksamit¹, Gaia Patane'¹, Owen A Ross², Rodolfo Savica³

Affiliations

¹ Department of Neurology, Mayo Clinic, Rochester, MN, USA.
² Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
³ Department of Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address: [email protected].

PMID: 38503262
DOI: 10.1016/j.parkreldis.2024.106038

Abstract

RAB39B mutations have been identified in X-linked developmental delays. Recently, RAB39B mutations were identified in males with early-onset parkinsonism and intellectual disability. A novel loss-of-function RAB39B mutation was found in a female patient with typical early-onset Parkinson's disease (EOPD). RAB39B mutations may cause EOPD, potentially due to a-synuclein homeostasis disruption.

Keywords: Early-onset Parkinson's disease; Genetics; RAB39B.

Publication types

Case Reports
Letter

MeSH terms

Adult
Age of Onset*
Female
Humans
Loss of Function Mutation
Parkinson Disease* / genetics
rab GTP-Binding Proteins* / genetics

Substances

rab GTP-Binding Proteins
Rab39B protein, human