Abstract |
There exists considerable clinical and pathological overlap between frontotemporal lobar degeneration ( FTLD) and amyotrophic lateral sclerosis (ALS), which implies that these 2 neurodegenerative conditions share common pathogenic mechanisms. Recently, intermediate-length (27-33) polyglutamine ( polyQ) expansions in ataxin-2 (ATXN2) have been associated with increased risk for ALS, while expansions of > 34 repeats are known to cause spinocerebellar ataxia type 2 (Sca-2). We identified in 72 ALS patients one patient with a 33 polyQ expansion that was absent in 810 control individuals. This allele was also found in one patient with concomitant ALS-Sca-2. In contrast, in a Flanders-Belgian series of 270 FTLD and 22 FTLD-ALS patients, we found no association with intermediate-length polyQ expansions nor did we observe patient-specific long expansions in agreement with the recent observation in a screening of a substantial sized cohort of patients with diverse neurodegenerative brain diseases. Our results provide further support to the notion that ATXN2 associated polyglutamine amplification is specific to the ALS-end of the FTLD-ALS disease spectrum.
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Authors | Tim Van Langenhove, Julie van der Zee, Sebastiaan Engelborghs, Rik Vandenberghe, Patrick Santens, Marleen Van den Broeck, Maria Mattheijssens, Karin Peeters, Dirk Nuytten, Patrick Cras, Peter P De Deyn, Peter De Jonghe, Marc Cruts, Christine Van Broeckhoven |
Journal | Neurobiology of aging
(Neurobiol Aging)
Vol. 33
Issue 5
Pg. 1004.e17-20
(May 2012)
ISSN: 1558-1497 [Electronic] United States |
PMID | 22035589
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2012 Elsevier Inc. All rights reserved. |
Chemical References |
- Ataxins
- Nerve Tissue Proteins
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Topics |
- Aged
- Amyotrophic Lateral Sclerosis
(epidemiology, ethnology, genetics)
- Ataxins
- Belgium
(epidemiology)
- Cohort Studies
- DNA Repeat Expansion
(genetics)
- Female
- Frontotemporal Lobar Degeneration
(epidemiology, ethnology, genetics)
- Genetic Association Studies
- Humans
- Male
- Middle Aged
- Nerve Tissue Proteins
(genetics)
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