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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

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Corrigendum to "The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation" [Neurobiology of Disease 2026 Feb 2; 220:107292, Page 1-13].

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Integrated multi-omics profiling reveals novel molecular biomarkers and pathways associated with Fragile X-associated tremor/ataxia syndrome.

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Use of Machine Learning to Identify Markers of Risk for Fragile X-Associated Tremor/Ataxia Syndrome: A Preliminary Analysis.

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Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers.

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Related Experiment Video

Updated: Jul 5, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Abnormal nerve conduction features in fragile X premutation carriers.

Kultida Soontarapornchai1, Ricardo Maselli, Grace Fenton-Farrell

  • 1M.I.N.D. Institute, University of California-Davis Medical Center, Sacramento, CA 95817, USA.

Archives of Neurology
|April 17, 2008
PubMed
Summary

Fragile X-associated tremor/ataxia syndrome (FXTAS) involves nerve damage in males. Nerve conduction studies show abnormalities in carriers, linked to FMR1 gene factors, even without full FXTAS symptoms.

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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder primarily affecting males.
  • A key genetic feature of FXTAS is the expansion of CGG repeats in the Fragile X mental retardation 1 (FMR1) gene, typically ranging from 55 to 200 repeats.
  • Distal neuropathy is a common clinical manifestation in males diagnosed with FXTAS.

Purpose of the Study:

  • To investigate nerve conduction abnormalities in male carriers of the FMR1 gene expansion.
  • To determine the relationship between FMR1 genotype, messenger RNA (mRNA) expression, and the presence and severity of neuropathy in FXTAS.
  • To assess if neuropathy occurs in FMR1 carriers without the full clinical presentation of FXTAS.

Main Methods:

  • Nerve conduction studies (NCS) were conducted on three groups: 16 male carriers with FXTAS, 11 male carriers without FXTAS, and 11 healthy control subjects.
  • Electrophysiological outcomes were analyzed in relation to the FMR1 genotype and FMR1 mRNA levels.
  • Statistical analyses were performed to identify significant differences and correlations between groups and molecular measures.

Main Results:

  • Male FXTAS patients exhibited significantly slower tibial nerve conduction velocities and prolonged F-wave latencies compared to controls and unaffected carriers.
  • Reduced sural nerve action potential amplitudes and compound muscle action potential amplitudes were observed in the FXTAS group relative to controls.
  • A longer CGG repeat number correlated with slower tibial nerve conduction velocity, and elevated FMR1 mRNA levels correlated with reduced tibial compound muscle action potential velocity in carriers.

Conclusions:

  • The FMR1 premutation genotype is a significant factor contributing to motor and sensory nerve conduction abnormalities in males.
  • Neuropathy can manifest in FMR1 carriers even in the absence of the full clinical syndrome of FXTAS.
  • These findings highlight the role of FMR1 gene alterations in the pathogenesis of peripheral neuropathy.