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

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

Research output: Contribution to journal › Letter › peer-review

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.

Original language	English (US)
Article number	106038
Journal	Parkinsonism and Related Disorders
Volume	123
DOIs	https://doi.org/10.1016/j.parkreldis.2024.106038
State	Published - Jun 2024

Keywords

Early-onset Parkinson's disease
Genetics
RAB39B

ASJC Scopus subject areas

Neurology
Geriatrics and Gerontology
Clinical Neurology

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10.1016/j.parkreldis.2024.106038

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

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",

author = "Jacobson, {Jessie R.} and Capucine Piat and Aksamit, {Allen J.} and Gaia Patane' and Ross, {Owen A.} and Rodolfo Savica",

note = "Publisher Copyright: {\textcopyright} 2024 Elsevier Ltd",

year = "2024",

month = jun,

doi = "10.1016/j.parkreldis.2024.106038",

language = "English (US)",

volume = "123",

journal = "Parkinsonism and Related Disorders",

issn = "1353-8020",

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TY - JOUR

T1 - Novel RAB39B loss-of-function mutation in patient with typical early-onset Parkinson's disease

AU - Jacobson, Jessie R.

AU - Piat, Capucine

AU - Aksamit, Allen J.

AU - Patane', Gaia

AU - Ross, Owen A.

AU - Savica, Rodolfo

PY - 2024/6

Y1 - 2024/6

N2 - 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.

AB - 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.

KW - Early-onset Parkinson's disease

KW - Genetics

KW - RAB39B

UR - http://www.scopus.com/inward/record.url?scp=85188446074&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85188446074&partnerID=8YFLogxK

U2 - 10.1016/j.parkreldis.2024.106038

DO - 10.1016/j.parkreldis.2024.106038

M3 - Letter

C2 - 38503262

AN - SCOPUS:85188446074

SN - 1353-8020

VL - 123

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

M1 - 106038

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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