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Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia

Şule Altıner1, Senol Ardic2, Alper H Çebi3

  • 1Department of Medical Genetics, Trabzon Kanuni Training and Research Hospital, University of Health Sciences, Trabzon, Turkey.

Molecular Syndromology
|April 8, 2020
PubMed

Insights

Huntington disease (HD), a neurodegenerative disorder, can manifest with hypothermia. This case report details the first human instance of hypothermia in late-stage Huntington disease, highlighting a potential thermoregulatory defect.

Area of Science:

  • Neuroscience
  • Genetics
  • Clinical Medicine

Background:

  • Huntington disease (HD) is an autosomal dominant neurodegenerative disorder.
  • It is characterized by expanded CAG repeat sizes in the huntingtin gene.
  • Common symptoms include movement, psychiatric, and cognitive issues, alongside weight loss and sleep disturbances.

Purpose of the Study:

  • To report the first human case of hypothermia in late-stage Huntington disease.
  • To investigate potential thermoregulatory dysfunction in human HD patients.

Main Methods:

  • Clinical case report.
  • Review of existing literature on HD and thermoregulation.

Main Results:

  • A patient with late-stage Huntington disease presented with hypothermia.
  • This is the first documented human case of hypothermia in HD.
  • Thermoregulatory defects have been previously observed in animal models of HD.

Conclusions:

  • Hypothermia may be a clinical manifestation of thermoregulatory defects in advanced Huntington disease.
  • This finding warrants further investigation into thermoregulation in HD patients.

Keywords:
HuntingtinHuntington diseaseHypothermiaPGC-1αThermoregulation

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