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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 1
  • Publication Date: 2020
  • Doi Number: 10.1159/000505887
  • Title of Journal : MOLECULAR SYNDROMOLOGY
  • Page Numbers: pp.56-58

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.