Small fiber neuropathy in female patients with fabry disease.
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.
Liguori
Rocco
R
Dipartimento di Scienze Neurologiche, Università di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy. rocco.liguori@unibo.it
Di Stasi
Vitantonio
V
Bugiardini
Enrico
E
Mignani
Renzo
R
Burlina
Alessandro
A
Borsini
Walter
W
Baruzzi
Agostino
A
Montagna
Pasquale
P
Donadio
Vincenzo
V
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