Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia

Altiner S., Ardic S., ÇEBİ A. H.

MOLECULAR SYNDROMOLOGY, vol.11, no.1, pp.56-58, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 1
  • Publication Date: 2020
  • Doi Number: 10.1159/000505887
  • 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


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.