UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands

Perry T.C. van Doormaal; Wouter van Rheenen; Marka van Blitterswijk; Raymond D. Schellevis; Helenius J. Schelhaas; Marianne de Visser; Anneke J. van der Kooi; Jan H. Veldink; Leonard H. van den Berg

doi:10.1016/j.neurobiolaging.2012.02.032

UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands

Perry T.C. van Doormaal, Wouter van Rheenen, Marka van Blitterswijk, Raymond D. Schellevis, Helenius J. Schelhaas, Marianne de Visser, Anneke J. van der Kooi, Jan H. Veldink, Leonard H. van den Berg

Neuroscience

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

11 Scopus citations

Abstract

Recently it was discovered that mutations in the UBQLN2 gene were a cause of an X-linked dominant type of familial amyotrophic lateral sclerosis (ALS). We investigated the frequency of mutations in this gene in a cohort of 92 families with ALS in the Netherlands. Eight families were excluded because of male-to-male transmission. In the remaining 84 familial ALS cases no mutations were discovered in UBQLN2. Hence, UBQLN2 was not found to be a cause of familial ALS in the Netherlands.

Original language	English (US)
Pages (from-to)	2233.e7-2233.e8
Journal	Neurobiology of aging
Volume	33
Issue number	9
DOIs	https://doi.org/10.1016/j.neurobiolaging.2012.02.032
State	Published - Sep 2012

Keywords

Amyotrophic lateral sclerosis
Motor neuron disease
UBQLN2
Ubiquilin 2

ASJC Scopus subject areas

General Neuroscience
Aging
Clinical Neurology
Developmental Biology
Geriatrics and Gerontology

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10.1016/j.neurobiolaging.2012.02.032

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@article{abafa6ec9dd74bf19f238751df59b168,

title = "UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands",

abstract = "Recently it was discovered that mutations in the UBQLN2 gene were a cause of an X-linked dominant type of familial amyotrophic lateral sclerosis (ALS). We investigated the frequency of mutations in this gene in a cohort of 92 families with ALS in the Netherlands. Eight families were excluded because of male-to-male transmission. In the remaining 84 familial ALS cases no mutations were discovered in UBQLN2. Hence, UBQLN2 was not found to be a cause of familial ALS in the Netherlands.",

keywords = "Amyotrophic lateral sclerosis, Motor neuron disease, UBQLN2, Ubiquilin 2",

author = "{van Doormaal}, {Perry T.C.} and {van Rheenen}, Wouter and {van Blitterswijk}, Marka and Schellevis, {Raymond D.} and Schelhaas, {Helenius J.} and {de Visser}, Marianne and {van der Kooi}, {Anneke J.} and Veldink, {Jan H.} and {van den Berg}, {Leonard H.}",

note = "Funding Information: J.H.V. is funded by the Thierry Latran Foundation. The research leading to these results has received funding from the European Community's Health Seventh Framework Programme (FP7/2007−2013) (grant agreement number 259867 ). ",

year = "2012",

month = sep,

doi = "10.1016/j.neurobiolaging.2012.02.032",

language = "English (US)",

volume = "33",

pages = "2233.e7--2233.e8",

journal = "Neurobiology of aging",

issn = "0197-4580",

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number = "9",

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T1 - UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands

AU - van Doormaal, Perry T.C.

AU - van Rheenen, Wouter

AU - van Blitterswijk, Marka

AU - Schellevis, Raymond D.

AU - Schelhaas, Helenius J.

AU - de Visser, Marianne

AU - van der Kooi, Anneke J.

AU - Veldink, Jan H.

AU - van den Berg, Leonard H.

N1 - Funding Information: J.H.V. is funded by the Thierry Latran Foundation. The research leading to these results has received funding from the European Community's Health Seventh Framework Programme (FP7/2007−2013) (grant agreement number 259867 ).

PY - 2012/9

Y1 - 2012/9

N2 - Recently it was discovered that mutations in the UBQLN2 gene were a cause of an X-linked dominant type of familial amyotrophic lateral sclerosis (ALS). We investigated the frequency of mutations in this gene in a cohort of 92 families with ALS in the Netherlands. Eight families were excluded because of male-to-male transmission. In the remaining 84 familial ALS cases no mutations were discovered in UBQLN2. Hence, UBQLN2 was not found to be a cause of familial ALS in the Netherlands.

AB - Recently it was discovered that mutations in the UBQLN2 gene were a cause of an X-linked dominant type of familial amyotrophic lateral sclerosis (ALS). We investigated the frequency of mutations in this gene in a cohort of 92 families with ALS in the Netherlands. Eight families were excluded because of male-to-male transmission. In the remaining 84 familial ALS cases no mutations were discovered in UBQLN2. Hence, UBQLN2 was not found to be a cause of familial ALS in the Netherlands.

KW - Amyotrophic lateral sclerosis

KW - Motor neuron disease

KW - UBQLN2

KW - Ubiquilin 2

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DO - 10.1016/j.neurobiolaging.2012.02.032

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AN - SCOPUS:84863451689

SN - 0197-4580

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SP - 2233.e7-2233.e8

JO - Neurobiology of aging

JF - Neurobiology of aging

IS - 9

ER -

UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands

Abstract

Keywords

ASJC Scopus subject areas

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