An atypical progressive dementia in a male carrier of the fragile X premutation: An example of fragile X-associated tremor/ataxia syndrome

Philip K. Mothersead, Kimberly Conrad, Randi J Hagerman, Claudia M. Greco, David R Hessl, Flora Tassone

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

This case study describes a 65-year-old man initially diagnosed with an atypical rapidly progressive dementia who subsequently participated in a research project at the MIND Institute at the University of California-Davis, where he was diagnosed with a recently identified neurodegenerative syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS). He was a carrier of the fragile X premutation and in later life developed tremor, gait ataxia, parkinsonism, and cognitive deficits that progressed very rapidly. This case study provides a detailed description of the individual's history, presenting symptoms, neuropsychological test results, and postmortem neuropathological analysis. Pathological findings showed diagnostic features of both FXTAS and Alzheimer's disease, which might help to explain the rapid progression of his dementia.

Original languageEnglish (US)
Pages (from-to)169-178
Number of pages10
JournalApplied Neuropsychology
Volume12
Issue number3
DOIs
StatePublished - 2005

Keywords

  • Fragile X premutation
  • Fragile X-associated tremor/ataxia syndrome
  • Progressive dementia

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology

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