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Muscle Nerve. 2015 Aug;52(2):234-9. doi: 10.1002/mus.24515.

Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome.

Author information

1
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Medical Center, 2825 50th Street, Sacramento, California, 95817, USA.
2
Department of Neurology, University of California Davis Health System, Sacramento, California, USA.
3
Division of Biostatistics, University of California Davis, Davis, California, USA.
4
Department of Medicine, University of California Irvine, Orange, California, USA.
5
Department of Biochemistry and Molecular Medicine, University of California Davis, Davis, California, USA.
6
Department of Pediatrics, University of California Davis Health System, Sacramento, California, USA.

Abstract

INTRODUCTION:

In this study we examined whether females with the fragile X-associated tremor ataxia syndrome (FXTAS) and non-FXTAS premutation carriers have electrophysiological signs of underlying peripheral neuropathy.

METHODS:

Nerve conduction studies (NCS) were performed on 19 women with FXTAS, 20 non-FXTAS carriers, and 26 age-matched controls. The results were compared with existing data on corresponding male carriers.

RESULTS:

Women with FXTAS and non-FXTAS carriers had reduced sensory nerve action potential amplitudes. Also, there was a strong trend for reduced compound muscle action potential amplitudes in women with FXTAS, but not in non-FXTAS carriers. No significant slowing of nerve conduction velocities, prolongation of F-wave latencies, or associations with molecular measures was observed.

CONCLUSIONS:

This study suggests an underlying axonal neuropathy in women with FXTAS. However, in comparison to men with FXTAS, the NCS abnormalities in women were less severe, possibly due to the effect of a normal X chromosome.

KEYWORDS:

FMR1; FXTAS; fragile X permutation; fragile X-associated tremor ataxia syndrome; nerve conduction studies

PMID:
25388402
PMCID:
PMC4427531
DOI:
10.1002/mus.24515
[Indexed for MEDLINE]
Free PMC Article

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