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

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.