Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome.
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.
['Ram|Suresh|S|', 'Devapriya|Inoka A|IA|', 'Fenton|Grace|G|', 'Mcvay|Lindsey|L|', 'Nguyen|Danh V|DV|', 'Tassone|Flora|F|', 'Maselli|Ricardo A|RA|', 'Hagerman|Randi J|RJ|']
D000368:Aged D001259:Ataxia D001369:Axons D015331:Cohort Studies D005260:Female D005600:Fragile X Syndrome D006579:Heterozygote D006801:Humans D008297:Male D008875:Middle Aged D009154:Mutation D009431:Neural Conduction D010523:Peripheral Nervous System Diseases D014202:Tremor
fragile X-associated tremor ataxia syndrome FXTAS nerve conduction studies FMR1 fragile X permutation