title: Small fiber neuropathy in female patients with fabry disease.
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.
authors.affiliation: Dipartimento di Scienze Neurologiche, Università di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy. rocco.liguori@unibo.it
authors.forename: Rocco
authors.initials: R
authors.lastname: Liguori
authors.forename: Vitantonio
authors.initials: V
authors.lastname: Di Stasi
authors.forename: Enrico
authors.initials: E
authors.lastname: Bugiardini
authors.forename: Renzo
authors.initials: R
authors.lastname: Mignani
authors.forename: Alessandro
authors.initials: A
authors.lastname: Burlina
authors.forename: Walter
authors.initials: W
authors.lastname: Borsini
authors.forename: Agostino
authors.initials: A
authors.lastname: Baruzzi
authors.forename: Pasquale
authors.initials: P
authors.lastname: Montagna
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Donadio
mesh_terms: D000328:Adult; D001341:Autonomic Nervous System / Q000473:pathology*; D004568:Electrodiagnosis; D000795:Fabry Disease / Q000150:complications / Q000473:pathology*; D005260:Female; D006801:Humans; D018613:Microscopy, Confocal; D008875:Middle Aged; D036421:Nerve Fibers, Unmyelinated / Q000473:pathology*; D009431:Neural Conduction / Q000502:physiology; D010147:Pain Measurement; D017288:Pain Threshold; D010523:Peripheral Nervous System Diseases / Q000209:etiology / Q000473:pathology*; D012867:Skin / Q000294:innervation* / Q000473:pathology