Aprataxin (APTX) gene mutations resembling multiple system atrophy

Yasuhiko Baba; Ryan J. Uitti; Kevin B. Boylan; Yoshinari Uehara; Tatsuo Yamada; Matthew J. Farrer; Elizabeth Couchon; Sat Dev Batish; Zbigniew K. Wszolek

doi:10.1016/j.parkreldis.2006.08.010

Aprataxin (APTX) gene mutations resembling multiple system atrophy

Yasuhiko Baba, Ryan J. Uitti, Kevin B. Boylan, Yoshinari Uehara, Tatsuo Yamada, Matthew J. Farrer, Elizabeth Couchon, Sat Dev Batish, Zbigniew K. Wszolek

Neurology

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

9 Scopus citations

Abstract

Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1. Recent studies showed clinical heterogeneity in patients with EAOH. We describe 2 patients whose clinical features resembled those of multiple system atrophy of the cerebellar subtype (MSA-C) but without ocular motor apraxia and hypoalbuminemia. Each had a different nucleotide transition in the APTX gene (725G→A and 457A→G). These variants on the APTX gene exhibit phenotypic variability.

Original language	English (US)
Pages (from-to)	139-142
Number of pages	4
Journal	Parkinsonism and Related Disorders
Volume	13
Issue number	3
DOIs	https://doi.org/10.1016/j.parkreldis.2006.08.010
State	Published - Apr 2007

Keywords

Aprataxin
Ataxia
Magnetic resonance imaging
Multiple system atrophy
Parkinsonism

ASJC Scopus subject areas

Neurology
Geriatrics and Gerontology
Clinical Neurology

Access to Document

10.1016/j.parkreldis.2006.08.010

Cite this

@article{3e09f11b03174bfaac4aaed13bb10770,

title = "Aprataxin (APTX) gene mutations resembling multiple system atrophy",

abstract = "Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1. Recent studies showed clinical heterogeneity in patients with EAOH. We describe 2 patients whose clinical features resembled those of multiple system atrophy of the cerebellar subtype (MSA-C) but without ocular motor apraxia and hypoalbuminemia. Each had a different nucleotide transition in the APTX gene (725G→A and 457A→G). These variants on the APTX gene exhibit phenotypic variability.",

keywords = "Aprataxin, Ataxia, Magnetic resonance imaging, Multiple system atrophy, Parkinsonism",

author = "Yasuhiko Baba and Uitti, {Ryan J.} and Boylan, {Kevin B.} and Yoshinari Uehara and Tatsuo Yamada and Farrer, {Matthew J.} and Elizabeth Couchon and Batish, {Sat Dev} and Wszolek, {Zbigniew K.}",

note = "Funding Information: This study was funded in part by NIH/NINDS Morris K. Udall PD Research Center of Excellence, awarded to Mayo Clinic, Jacksonville, Florida.",

year = "2007",

month = apr,

doi = "10.1016/j.parkreldis.2006.08.010",

language = "English (US)",

volume = "13",

pages = "139--142",

journal = "Parkinsonism and Related Disorders",

issn = "1353-8020",

publisher = "Elsevier BV",

number = "3",

}

TY - JOUR

T1 - Aprataxin (APTX) gene mutations resembling multiple system atrophy

AU - Baba, Yasuhiko

AU - Uitti, Ryan J.

AU - Boylan, Kevin B.

AU - Uehara, Yoshinari

AU - Yamada, Tatsuo

AU - Farrer, Matthew J.

AU - Couchon, Elizabeth

AU - Batish, Sat Dev

AU - Wszolek, Zbigniew K.

N1 - Funding Information: This study was funded in part by NIH/NINDS Morris K. Udall PD Research Center of Excellence, awarded to Mayo Clinic, Jacksonville, Florida.

PY - 2007/4

Y1 - 2007/4

N2 - Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1. Recent studies showed clinical heterogeneity in patients with EAOH. We describe 2 patients whose clinical features resembled those of multiple system atrophy of the cerebellar subtype (MSA-C) but without ocular motor apraxia and hypoalbuminemia. Each had a different nucleotide transition in the APTX gene (725G→A and 457A→G). These variants on the APTX gene exhibit phenotypic variability.

AB - Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1. Recent studies showed clinical heterogeneity in patients with EAOH. We describe 2 patients whose clinical features resembled those of multiple system atrophy of the cerebellar subtype (MSA-C) but without ocular motor apraxia and hypoalbuminemia. Each had a different nucleotide transition in the APTX gene (725G→A and 457A→G). These variants on the APTX gene exhibit phenotypic variability.

KW - Aprataxin

KW - Ataxia

KW - Magnetic resonance imaging

KW - Multiple system atrophy

KW - Parkinsonism

UR - http://www.scopus.com/inward/record.url?scp=33947256186&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33947256186&partnerID=8YFLogxK

U2 - 10.1016/j.parkreldis.2006.08.010

DO - 10.1016/j.parkreldis.2006.08.010

M3 - Article

C2 - 17049295

AN - SCOPUS:33947256186

SN - 1353-8020

VL - 13

SP - 139

EP - 142

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

IS - 3

ER -

Aprataxin (APTX) gene mutations resembling multiple system atrophy

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this