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The Pathology of FXTAS

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

Abstract

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.

Keywords

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.

Abbreviations

DRPLA

Dentatorubropallidoluysian atrophy

SBMA

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

NIID

Neuronal intranuclear inclusion disease

SCA

Spinocerebellar ataxia

AD

Alzheimer’s disease

PD

Parkinson’s disease

5ʹ UTR

5ʹ Untranslated region

MS

Multiple sclerosis

FXTAS

Fragile X-associated tremor/ataxia syndrome

FMR1

Fragile X mental retardation gene

FMRP

Fragile X mental retardation protein

H&E

Hematoxylin and eosin stain

HD

Huntington’s disease

PAS

Periodic acid-Schiff stain

LFB

Luxol fast blue stain

MCP

Middle cerebellar peduncle

IF

Intermediate filament

NF

Neurofilament

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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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