Effect of genetic modifiers on cerebral lesions in Fabry disease

Gheona Altarescu; David F. Moore; Raphael Schiffmann

doi:10.1212/01.WNL.0000166000.24321.4F

Effect of genetic modifiers on cerebral lesions in Fabry disease

Gheona Altarescu
, David F. Moore
, Raphael Schiffmann^*

^*Corresponding author for this work

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

85 Scopus citations

Abstract

Fabry disease is associated with increased risk of premature stroke and presumptive ischemic cerebral lesions. In 57 consecutive patients, 35% of whom had lesions on brain MEI, the authors found that genotypes of polymorphisms G-174C of interleukin-6, G894T of endothelial nitric oxide synthase, factor V G1691A mutation, and the A-13G and G79A of protein Z were all significantly associated with cerebral lesions. These findings suggest that these proteins modulate Fabry cerebral vasculopathy.

Original language	English
Pages (from-to)	2148-2150
Number of pages	3
Journal	Neurology
Volume	64
Issue number	12
DOIs	https://doi.org/10.1212/01.WNL.0000166000.24321.4F
State	Published - 28 Jun 2005
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Access to Document

10.1212/01.WNL.0000166000.24321.4F

Cite this

@article{c3e452ba097c4b80b1d23b731ec5b2ea,

title = "Effect of genetic modifiers on cerebral lesions in Fabry disease",

abstract = "Fabry disease is associated with increased risk of premature stroke and presumptive ischemic cerebral lesions. In 57 consecutive patients, 35\% of whom had lesions on brain MEI, the authors found that genotypes of polymorphisms G-174C of interleukin-6, G894T of endothelial nitric oxide synthase, factor V G1691A mutation, and the A-13G and G79A of protein Z were all significantly associated with cerebral lesions. These findings suggest that these proteins modulate Fabry cerebral vasculopathy.",

author = "Gheona Altarescu and Moore, \{David F.\} and Raphael Schiffmann",

year = "2005",

month = jun,

day = "28",

doi = "10.1212/01.WNL.0000166000.24321.4F",

language = "אנגלית",

volume = "64",

pages = "2148--2150",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "12",

}

TY - JOUR

T1 - Effect of genetic modifiers on cerebral lesions in Fabry disease

AU - Altarescu, Gheona

AU - Moore, David F.

AU - Schiffmann, Raphael

PY - 2005/6/28

Y1 - 2005/6/28

N2 - Fabry disease is associated with increased risk of premature stroke and presumptive ischemic cerebral lesions. In 57 consecutive patients, 35% of whom had lesions on brain MEI, the authors found that genotypes of polymorphisms G-174C of interleukin-6, G894T of endothelial nitric oxide synthase, factor V G1691A mutation, and the A-13G and G79A of protein Z were all significantly associated with cerebral lesions. These findings suggest that these proteins modulate Fabry cerebral vasculopathy.

AB - Fabry disease is associated with increased risk of premature stroke and presumptive ischemic cerebral lesions. In 57 consecutive patients, 35% of whom had lesions on brain MEI, the authors found that genotypes of polymorphisms G-174C of interleukin-6, G894T of endothelial nitric oxide synthase, factor V G1691A mutation, and the A-13G and G79A of protein Z were all significantly associated with cerebral lesions. These findings suggest that these proteins modulate Fabry cerebral vasculopathy.

UR - https://www.scopus.com/pages/publications/21144431735

U2 - 10.1212/01.WNL.0000166000.24321.4F

DO - 10.1212/01.WNL.0000166000.24321.4F

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

C2 - 15985593

AN - SCOPUS:21144431735

SN - 0028-3878

VL - 64

SP - 2148

EP - 2150

JO - Neurology

JF - Neurology

IS - 12

ER -

Effect of genetic modifiers on cerebral lesions in Fabry disease

Abstract

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this