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UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands
- Source :
- Neurobiology of aging, 33(9), 2233.e7-2233.e8. Elsevier Inc., Neurobiology of Aging; Vol 33
- Publication Year :
- 2012
-
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. (C) 2012 Elsevier Inc. All rights reserved
- Subjects :
- Male
Aging
DNA Mutational Analysis
Autophagy-Related Proteins
Cell Cycle Proteins
UBQLN2
Cohort Studies
03 medical and health sciences
0302 clinical medicine
Medicine
Humans
Amyotrophic lateral sclerosis
Ubiquitins
030304 developmental biology
UBQLN2 gene
Adaptor Proteins, Signal Transducing
Netherlands
Genetics
Family health
Family Health
0303 health sciences
biology
business.industry
General Neuroscience
Amyotrophic Lateral Sclerosis
medicine.disease
3. Good health
Cohort
Mutation
biology.protein
Female
Neurology (clinical)
Geriatrics and Gerontology
business
030217 neurology & neurosurgery
Developmental Biology
Subjects
Details
- Language :
- English
- ISSN :
- 01974580
- Volume :
- 33
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- Neurobiology of aging
- Accession number :
- edsair.doi.dedup.....25b5f40a4f404d2ca620af1bebf6c95a
- Full Text :
- https://doi.org/10.1016/j.neurobiolaging.2012.02.032