Authors: Anja Mähler Jochen Steiniger Matthias Endres Friedemann Paul Michael Boschmann Sarah Doss
Publish Date: 2014/03/08
Volume: 13, Issue: 4, Pages: 440-446
Abstract
Autosomal dominant spinocerebellar ataxia type 1 SCA1 is a genetic movement disorder with neuronal loss in the cerebellum brainstem and other cerebral regions The course of SCA1 is accompanied with progressive weight loss and amyotrophia—the causes for that remain however unclear We tested the hypothesis that an imbalance between energy intake and expenditure contributes to weight loss in SCA1 patients Anthropometric measures energy intake food records and resting calorimetry and freeliving accelerometry energy expenditure were determined in 10 patients with genetically proven SCA1 and 10 healthy controls closely matched for age sex and body composition At rest energy expenditure per kilogram fatfree mass was 22 and fat oxidation rate 28 higher in patients vs controls indicating an increased catabolic state Under freeliving conditions total energy expenditure and daily step counts were significantly lower in patients vs controls However most patients were able to maintain energy intake and expenditure in a balanced state Resting energy expenditure fat oxidation and activity energy expenditure per step count are higher whereas 24h total energy expenditure is lower in SCA1 patients vs healthy controls An altered autonomic nervous system activity gait ataxia and a decreased physical activity might contribute to this outcomeWe thank Gabriele Rahn for assisting in recruiting and investigating study participants This work was supported by the Deutsche Forschungsemeinschaft DFG Exc 257 to FP and DFG KFO 192/2 and DFG GRK 1631 to MB and supporting grants from the Department of Neurology and the Experimental and Clinical Research Center Charité Universitätsmedizin Berlin
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