Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia
MOLECULAR SYNDROMOLOGY, vol.11, no.1, pp.56-58, 2020 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 11 Issue: 1
- Publication Date: 2020
- Doi Number: 10.1159/000505887
- Journal Name: MOLECULAR SYNDROMOLOGY
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
- Page Numbers: pp.56-58
- Keywords: Huntingtin, Huntington disease, Hypothermia, PGC-1 alpha, Thermoregulation, ENERGY-METABOLISM, PGC-1-ALPHA, DEFECTS, MUSCLE
- Karadeniz Technical University Affiliated: Yes
Abstract
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.