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Article

Neuropathic features in fragile X premutation carriers.

American journal of medical genetics. Part A - 1 Jan 2007

Berry-Kravis Elizabeth, Goetz Christopher G, Leehey Maureen A, Hagerman Randi J, Zhang Lin, Li Lexin, Nguyen Danh, Hall Deborah A, Tartaglia Nicole, Cogswell Jennifer, Tassone Flora, Hagerman Paul J

Abstract excerpt

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological condition occurring in fragile X premutation carriers, predominantly males, and resulting in CNS dysfunction including tremor, ataxia, Parkinsonism, and cognitive decline. Neuropathic signs have also been described. The objective of this study was to compare neuropathic signs in fragile X premutation carriers versus controls and...

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Topics

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Share to Fragile X Mental Retardation Protein
Share to Fragile X Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to FMR1 gene

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Share to Peripheral Nervous System Diseases

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Source

Identifiers

PMID: 17152065
DOI: 10.1002/ajmg.a.31559

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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