Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia

Altiner S., Ardic S., ÇEBİ A. H.

MOLECULAR SYNDROMOLOGY, cilt.11, sa.1, ss.56-58, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11 Sayı: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1159/000505887
  • Dergi Adı: MOLECULAR SYNDROMOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.56-58
  • Anahtar Kelimeler: Huntingtin, Huntington disease, Hypothermia, PGC-1 alpha, Thermoregulation, ENERGY-METABOLISM, PGC-1-ALPHA, DEFECTS, MUSCLE
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

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.