Testicular degeneration in Huntington disease

Research output: Contribution to journalArticle


Huntington disease (HD) is an adult onset, neurodegenerative disorder that results from CAG expansion in the HD gene. Recent work has demonstrated testicular degeneration in mouse models of HD and alterations in the hypothalamic-pituitary-gonadal (HPG) axis in HD patients. Here, we show that HD patients have specific testicular pathology with reduced numbers of germ cells and abnormal seminiferous tubule morphology. In the YAC128 mouse model, testicular degeneration develops prior to 12 months of age, but at 12 months, there is no evidence for decreased testosterone levels or loss of GnRH neurons in the hypothalamus. This suggests that testicular pathology results from a direct toxic effect of mutant huntingtin in the testis and is supported by the fact that huntingtin is highly expressed in the affected cell populations in the testis. Understanding the pathogenesis of HD in the testis may reveal common critical pathways which lead to degeneration in both the brain and testis.


  • Jeremy M. Van Raamsdonk
  • Zoe Murphy
  • David M. Selva
  • Reza Hamidizadeh
  • Jacqueline Pearson
  • Åsa Petersén
  • Maria Björkqvist
  • Cameron Muir
  • Ian R. Mackenzie
  • Geoffrey L. Hammond
  • A. Wayne Vogl
  • Michael R. Hayden
  • Blair R. Leavitt
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Neurosciences


  • YAC128 mouse model, testosterone, axis, hypothalamic-pituitary-gonadal, testis, Huntington disease, Huntingtin, testicular degeneration
Original languageEnglish
Pages (from-to)512-520
JournalNeurobiology of Disease
Issue number3
Publication statusPublished - 2007
Publication categoryResearch