Rapidly progressing neurocognitive disorder in a male with fxtas and alzheimer’s disease

Elber Yuksel Aydin, Andrea Schneider, Dragana Protic, Jun Yi Wang, Veronica Martínez-Cerdeño, Flora Tassone, Hiu Tung Tang, Susan Perlman, Randi J. Hagerman

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Fragile X–associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Additional disorders can co-occur with FXTAS including Alzheimer’s disease (AD). Here we discuss a case report of a male with 67 CGG repeats in FMR1 who had mild late-onset FXTAS symptoms followed by neurocognitive disorder symptoms consistent with AD. The patient has developed tremor and ataxia that are the two characteristic symptoms of FXTAS. In addition, he shows rapid cognitive decline, brain atrophy most substantial in the medial temporal lobe, and decreased metabolism in the brain regions that are the characteristic findings of AD. The purpose of this study is to describe a patient profile with both diseases and review the details of an overlap between these two diseases.

Original languageEnglish (US)
Pages (from-to)285-292
Number of pages8
JournalClinical Interventions in Aging
StatePublished - Jan 1 2020


  • Alzheimer’s disease
  • Cognitive decline
  • Neurocognitive disorder
  • Neurogenetics
  • Premutation

ASJC Scopus subject areas

  • Geriatrics and Gerontology


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