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Ataxin-2 intermedia...
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
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Lee, Teresa (author)
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Li, Yun R (author)
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- Ingre, Caroline (author)
- Karolinska Institutet,Umeå universitet,Klinisk neurovetenskap
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Weber, Markus (author)
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Grehl, Torsten (author)
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Gredal, Ole (author)
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de Carvalho, Mamede (author)
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Meyer, Thomas (author)
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Tysnes, Ole-Björn (author)
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Auburger, Georg (author)
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Gispert, Suzana (author)
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Bonini, Nancy M (author)
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- Andersen, Peter M (author)
- Umeå universitet,Klinisk neurovetenskap
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Gitler, Aaron D (author)
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(creator_code:org_t)
- 2011-02-03
- 2011
- English.
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 20:9, s. 1697-1700
- Related links:
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https://academic.oup...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease primarily affecting motor neurons. We recently identified intermediate-length polyglutamine (polyQ) expansions (27-33 Qs) in ataxin 2 as a genetic risk factor for sporadic ALS in North American ALS patients. To extend these findings, we assessed the ataxin 2 polyQ repeat length in 1294 European ALS patients and 679 matched healthy controls. We observed a significant association between polyQ expansions and ALS (>30 Qs; P= 6.2 × 10(-3)). Thus, intermediate-length ataxin 2 polyQ repeat expansions are associated with increased risk for ALS also in the European cohort. The specific polyQ length cutoff, however, appears to vary between different populations, with longer repeat lengths showing a clear association. Our findings support the hypothesis that ataxin 2 plays an important role in predisposing to ALS and that polyQ expansions in ataxin 2 are a significant risk factor for the disease.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Lee, Teresa
-
Li, Yun R
-
Ingre, Caroline
-
Weber, Markus
-
Grehl, Torsten
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Gredal, Ole
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show more...
-
de Carvalho, Mam ...
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Meyer, Thomas
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Tysnes, Ole-Björ ...
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Auburger, Georg
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Gispert, Suzana
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Bonini, Nancy M
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Andersen, Peter ...
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Gitler, Aaron D
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Human Molecular ...
- By the university
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Umeå University
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Karolinska Institutet