WEIGHT LOSS IN HUNTINGTON DISEASE INCREASES WITH HIGHER CAG REPEAT NUMBER
作者： N. A. Aziz , J.M.M. van der Burg , G. B. Landwehrmeyer , P. Brundin , T. Stijnen
DOI: 10.1212/01.WNL.0000334276.09729.0E
关键词: Endocrinology 、 Neurology 、 Weight loss 、 Disease 、 Body mass index 、 Degenerative disease 、 Huntingtin Protein 、 Central nervous system disease 、 Psychology 、 Internal medicine 、 Pathology 、 Hereditary Neurodegenerative Disorder
摘要: Objective: Huntington disease (HD) is a hereditary neurodegenerative disorder caused by an expanded number of CAG repeats in the huntingtin gene. A hallmark HD unintended weight loss, cause which unknown. In order to elucidate underlying mechanisms loss HD, we studied its relation other characteristics including motor, cognitive, and behavioral disturbances repeat number. Methods: 517 patients with early stage applied mixed-effects model analyses correlate changes over 3 years various components Unified Huntington’s Disease Rating Scale (UHDRS). We also assessed between body caloric intake R6/2 mouse HD. Results: mean mass index decreased −0.15 units per year ( p Conclusions: Weight directly linked length likely result from hypermetabolic state. Other signs symptoms are unlikely contribute stages. Elucidation responsible could lead effective energy-based therapeutics.
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