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

doi:10.1002/mus.21606

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

Istituto Scienze Neurologiche

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	409-412
Number of pages	4
Journal	Muscle and Nerve
Volume	41
Issue number	3
DOIs	https://doi.org/10.1002/mus.21606
Publication status	Published - Mar 2010

Keywords

Autonomic dysfunction
Fabry disease
Female
Skin biopsy
Small fiber neuropathy

ASJC Scopus subject areas

Clinical Neurology
Cellular and Molecular Neuroscience
Physiology (medical)
Physiology

Access to Document

10.1002/mus.21606

Cite this

@article{e43d1e876c64425796eaee6bd87047e5,

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.",

keywords = "Autonomic dysfunction, Fabry disease, Female, Skin biopsy, Small fiber neuropathy",

author = "Rocco Liguori and {Di Stasi}, Vitantonio and Enrico Bugiardini and Renzo Mignani and Alessandro Burlina and Walter Borsini and Agostino Baruzzi and Pasquale Montagna and Vincenzo Donadio",

year = "2010",

month = mar,

doi = "10.1002/mus.21606",

language = "English",

volume = "41",

pages = "409--412",

journal = "Muscle and Nerve",

issn = "0148-639X",

publisher = "John Wiley and Sons Inc.",

number = "3",

}

TY - JOUR

T1 - Small fiber neuropathy in female patients with fabry disease

AU - Liguori, Rocco

AU - Di Stasi, Vitantonio

AU - Bugiardini, Enrico

AU - Mignani, Renzo

AU - Burlina, Alessandro

AU - Borsini, Walter

AU - Baruzzi, Agostino

AU - Montagna, Pasquale

AU - Donadio, Vincenzo

PY - 2010/3

Y1 - 2010/3

N2 - 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.

AB - 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.

KW - Autonomic dysfunction

KW - Fabry disease

KW - Female

KW - Skin biopsy

KW - Small fiber neuropathy

UR - http://www.scopus.com/inward/record.url?scp=77649169687&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77649169687&partnerID=8YFLogxK

U2 - 10.1002/mus.21606

DO - 10.1002/mus.21606

M3 - Article

C2 - 20120004

AN - SCOPUS:77649169687

SN - 0148-639X

VL - 41

SP - 409

EP - 412

JO - Muscle and Nerve

JF - Muscle and Nerve

IS - 3

ER -

Small fiber neuropathy in female patients with fabry disease

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this