Journal
MOLECULAR SYNDROMOLOGY
Volume 11, Issue 1, Pages 56-58Publisher
KARGER
DOI: 10.1159/000505887
Keywords
Huntingtin; Huntington disease; Hypothermia; PGC-1 alpha; Thermoregulation
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Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder associated with expanded CAG repeat size in the huntingtin gene and usually presenting with movement disorder, psychiatric symptoms, and cognitive decline. Sleep problems, weight loss, and cachexia are also common. Here, we report a patient presenting with hypothermia in late-stage HD. Although thermoregulatory defects were documented in animal models, this is the first report describing HD with hypothermia in humans.
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