The Pathology of FXTAS

  • Claudia M. Greco
  • Michael R. Hunsaker
  • Robert F. Berman


In 2002 a syndrome of tremor, ataxia, cognitive decline, and the presence of unique ubiquitin staining intranuclear inclusions in the brain was discovered in premutation males carrying an expansion of between 55 and 200 CGG trinucleotide repeats on the FMR1 gene. This clinical syndrome is now known as fragile X-associated tremor/ataxia (FXTAS) and has been found in both male and female carriers of the expanded premutation allele. The goal of this chapter is to summarize what is known about the anatomical pathology associated with the fragile X premutation and particularly in those individuals with FXTAS. Neuropathology in FXTAS was initially found in the central nervous system, but recent evidence has demonstrated pathological features, including intranuclear inclusions, in the peripheral nervous system, the enteric nervous system, and the neuroendocrine system. The precise cellular dysfunctions that underlie these pathologic features are currently under intense investigation with the goal of prevention and treatment of this devastating disorder.


Intranuclear Inclusion Tunica Albuginea FMR1 Gene Middle Cerebellar Peduncle Premutation Carrier 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Dentatorubropallidoluysian atrophy


X-linked spinobulbar muscular atrophy (Kennedy’s disease)


Neuronal intranuclear inclusion disease


Spinocerebellar ataxia


Alzheimer’s disease


Parkinson’s disease

5ʹ UTR

5ʹ Untranslated region


Multiple sclerosis


Fragile X-associated tremor/ataxia syndrome


Fragile X mental retardation gene


Fragile X mental retardation protein


Hematoxylin and eosin stain


Huntington’s disease


Periodic acid-Schiff stain


Luxol fast blue stain


Middle cerebellar peduncle


Intermediate filament




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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Claudia M. Greco
    • 1
  • Michael R. Hunsaker
    • 2
  • Robert F. Berman
    • 3
  1. 1.Department of Pathology, Davis Medical CenterUniversity of CaliforniaSacramentoUSA
  2. 2.Program in NeuroscienceUniversity of CaliforniaDavisUSA
  3. 3.Department of Neurological Surgery, Neurotherapeutics Research InstituteUniversity of CaliforniaDavisUSA

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