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Small fiber neuropathy in female patients with fabry disease
Author(s) -
Liguori Rocco,
Di Stasi Vitantonio,
Bugiardini Enrico,
Mignani Renzo,
Burlina Alessandro,
Borsini Walter,
Baruzzi Agostino,
Montagna Pasquale,
Donadio Vincenzo
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21606
Subject(s) - asymptomatic , medicine , fabry disease , skin biopsy , peripheral neuropathy , nerve fiber , somatic cell , biopsy , cardiology , disease , pathology , endocrinology , anatomy , diabetes mellitus , biology , biochemistry , gene
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. Muscle Nerve, 2010