Fragile X-Associated Tremor Ataxia/Syndrome

H. E. Bronsky; S. Coffey; Randi J Hagerman

doi:10.1016/B978-008045046-9.01518-7

Fragile X-Associated Tremor Ataxia/Syndrome

H. E. Bronsky, S. Coffey, Randi J Hagerman

Developmental - Behavioral Pediatrics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Approximately one-third of the male carriers of the fragile X premutation allele (CGG repeat size of 55-200 on the. FMR1 gene) are at risk of developing the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). This disorder is caused by a mutation in the same gene on the X chromosome as the childhood-onset neurodevelopmental disorder fragile X syndrome. FXTAS is characterized by gait ataxia, intention tremor, and brain atrophy with intranuclear inclusions found in cortical and subcortical structures. FXTAS is commonly mistaken for other movement disorders, such as atypical Parkinson's disease and multiple system atrophy.

Original language	English (US)
Title of host publication	Encyclopedia of Neuroscience
Publisher	Elsevier Ltd
Pages	335-339
Number of pages	5
ISBN (Print)	9780080450469
DOIs	https://doi.org/10.1016/B978-008045046-9.01518-7
State	Published - 2010

Keywords

Ataxia
Dementia
FMR1
FMRP
Fragile X syndrome
FXS
FXTAS
Neurodegeneration
Neuropathy
Parkinsonism
Premutation
Tremor

ASJC Scopus subject areas

Neuroscience(all)

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10.1016/B978-008045046-9.01518-7

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abstract = "Approximately one-third of the male carriers of the fragile X premutation allele (CGG repeat size of 55-200 on the. FMR1 gene) are at risk of developing the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). This disorder is caused by a mutation in the same gene on the X chromosome as the childhood-onset neurodevelopmental disorder fragile X syndrome. FXTAS is characterized by gait ataxia, intention tremor, and brain atrophy with intranuclear inclusions found in cortical and subcortical structures. FXTAS is commonly mistaken for other movement disorders, such as atypical Parkinson's disease and multiple system atrophy.",

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AU - Hagerman, Randi J

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N2 - Approximately one-third of the male carriers of the fragile X premutation allele (CGG repeat size of 55-200 on the. FMR1 gene) are at risk of developing the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). This disorder is caused by a mutation in the same gene on the X chromosome as the childhood-onset neurodevelopmental disorder fragile X syndrome. FXTAS is characterized by gait ataxia, intention tremor, and brain atrophy with intranuclear inclusions found in cortical and subcortical structures. FXTAS is commonly mistaken for other movement disorders, such as atypical Parkinson's disease and multiple system atrophy.

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