Title: Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts
Authors: Van Langenhove, Tim ×
van der Zee, Julie
Engelborghs, Sebastiaan
Vandenberghe, Rik
Santens, Patrick
Van den Broeck, Marleen
Mattheijssens, Maria
Peeters, Karin
Nuytten, Dirk
Cras, Patrick
De Deyn, Peter P
De Jonghe, Peter
Cruts, Marc
Van Broeckhoven, Christine #
Issue Date: May-2012
Publisher: Elsevier
Series Title: Neurobiology of Aging vol:33 issue:5
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.
ISSN: 0197-4580
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Laboratory for Cognitive Neurology
Clerkships Office, Faculty of Medicine - miscellaneous
× corresponding author
# (joint) last author

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