Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Marwa Zafarullah, Flora Tassone

Research output: Contribution to journalArticle

Abstract

Individuals carrying an FMR1 expansion between 55 and 200 CGG repeats, are at risk of developing the Fragile X-associated tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder characterized by cerebellar gait ataxia, intentional tremor, neuropathy, parkinsonism, cognitive decline, and psychological disorders, such as anxiety and depression. In addition, brain atrophy, white matter disease, and hyperintensities of the middle cerebellar peduncles can also be present. The neuropathological distinct feature of FXTAS is represented by the presence of eosinophilic intranuclear inclusions in neurons and astrocytes throughout the brain and in other tissues. In this chapter, protocols for available diagnostic tools, in both humans and mice, the clinical features and the basic molecular mechanisms leading to FXTAS and the animal models proposed to study this disorder are discussed.

Original languageEnglish (US)
Pages (from-to)173-189
Number of pages17
JournalMethods in molecular biology (Clifton, N.J.)
Volume1942
DOIs
StatePublished - Jan 1 2019

Fingerprint

Gait Ataxia
Leukoencephalopathies
Intranuclear Inclusion Bodies
Brain
Parkinsonian Disorders
Tremor
Astrocytes
Neurodegenerative Diseases
Atrophy
Anxiety
Animal Models
Depression
Psychology
Neurons
Fragile X Tremor Ataxia Syndrome
Cognitive Dysfunction
Late Onset Disorders
Middle Cerebellar Peduncle

Keywords

  • Ataxia
  • FMR1
  • FMRP
  • FXTAS
  • qRT-PCR
  • TP-PCR
  • Tremor

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

Cite this

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). / Zafarullah, Marwa; Tassone, Flora.

In: Methods in molecular biology (Clifton, N.J.), Vol. 1942, 01.01.2019, p. 173-189.

Research output: Contribution to journalArticle

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