Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy

摘要: We studied in vivo muscle energy metabolism patients with Huntington's disease (HD) and dentatorubropallidoluysian atrophy (DRPLA) using P-31 magnetic resonance spectroscopy (MRS). Twelve gene-positive HP (4 presymptomatic patients) 2 DRPLA (1 patient) were studied. P-31-MRS at rest showed a reduced phosphocreatine-to-inorganic phosphate ratio the symptomatic HD patient. Muscle adenosine triphosphate/(phosphocreatine + inorganic phosphate) was significantly both groups of subjects below normal range subjects. During recovery from exercise, maximum rate mitochondrial triphosphate production by 44% 35% carriers. The also around 46% Our findings show that share deficit oxidative metabolism, supporting role for dysfunction as factor involved pathogenesis these polyglutamine repeat-mediated neurodegenerative disorders. identification abnormalities may offer surrogate biochemical marker which to study progression effects treatment DRPLA.