Article
Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2005
Saft Carsten, Zange Jochen, Andrich Jürgen, Müller Klaus, Lindenberg Katrin, Landwehrmeyer Bernhard, Vorgerd Matthias, Kraus Peter H, Przuntek Horst, Schöls Ludger
Abstract excerpt
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in the IT-15 gene; however, it remains unknown how the mutation leads to selective neurodegeneration. Several lines of evidence suggest impaired mitochondrial function as a component of the neurodegenerative process in HD. We assessed energy metabolism in the skeletal muscle of 15 HD patients...
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