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Small fiber neuropathy in female patients with fabry disease

Rocco Liguori, Vitantonio Di Stasi, Enrico Bugiardini, Renzo Mignani, Alessandro Burlina, Walter Borsini, Agostino Baruzzi, Pasquale Montagna, Vincenzo Donadio
Muscle & Nerve 2010, 41 (3): 409-12
20120004
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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