Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6809163 | Neurobiology of Aging | 2012 | 4 Pages |
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,