Small fiber neuropathy in female patients with fabry disease

Muscle & Nerve
Rocco LiguoriVincenzo Donadio

Abstract

Recent studies suggest that heterozygous female Fabry disease (FD) patients develop peripheral neuropathy. We used skin biopsy to define somatic and autonomic peripheral nerve characteristics in 21 females with FD who were mainly asymptomatic and had normal renal function. Somatic epidermal and dermal autonomic nerve fiber reductions were found, prevalently in the leg, and no differences were found between symptomatic and asymptomatic individuals. Our findings suggest that females with FD, although asymptomatic, may have somatic and autonomic small fiber neuropathy.

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Citations

Mar 20, 2010·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Alessandro SalviatiWalter Borsini
Nov 10, 2011·Brain : a Journal of Neurology·David Borsook
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