A Case of Previously Unsuspected Huntington Disease Diagnosed at Autopsy

Catherine R. Miller, Nobby C. Mambo, Jianli Dong, Gerald A. Campbell

Research output: Contribution to journalArticlepeer-review


Huntington disease (HD) is a neurodegenerative disorder with a worldwide prevalence of four to ten per 100 000. It is characterized by choreiform movements, behavioral/psychiatric disturbances, and eventual cognitive decline. Symptoms usually present between 30 and 50 years of age and the diagnosis is based on the combination of clinical symptoms, family history, and genetic testing. A variation of HD, juvenile Huntington disease (JHD), presents earlier, with more severe symptoms and with a worse prognosis. Symptoms are different in JHD, with personality changes and learning difficulties being the predominant presenting features. Seizures are common in JHD, and chorea is uncommon; movement disorders at presentation of JHD are predominantly nonchoreiform. The inheritance pattern for both HD and JHD is autosomal dominant and the disease is caused by an elongation of the CAG repeat in the huntingtin gene. There are many published case reports of Huntington disease that were confirmed at autopsy, but to our knowledge, there are no reports in the literature where the diagnosis of Huntington disease was first made at autopsy. We present a case of a 28-year-old African-American male who was in a state of neglect due to a lifetime of abuse, cognitive difficulties, and seizures, whose cause of death was pneumonia. The gross autopsy findings included bilateral caudate nucleus atrophy and lateral ventricular dilation. Microscopically, severe bilateral neuronal loss and gliosis of the caudate and putamen nuclei were seen. Genetic testing for the number of CAG repeats confirmed the diagnosis and was consistent with JHD.

Original languageEnglish (US)
Pages (from-to)136-144
Number of pages9
JournalAcademic Forensic Pathology
Issue number1
StatePublished - Mar 1 2017
Externally publishedYes


  • Autopsy
  • Forensic pathology
  • Huntington disease
  • Juvenile Huntington disease
  • Molecular diagnostics
  • Neuropathology

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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