Effect of genetic modifiers on cerebral lesions in Fabry disease

被引：67

作者：

Altarescu, G

Moore, DF

Schiffmann, R

机构：

[1] NINDS, Dev & Metab Neurol Branch, NIH, Bethesda, MD 20892 USA

[2] Shaare Zedek Med Ctr, Dept Internal Med, Jerusalem, Israel

[3] Univ Manitoba, Dept Internal Med, Neurol Sect, Winnipeg, MB R3T 2N2, Canada

来源：

NEUROLOGY | 2005年 / 64卷 / 12期

关键词：

D O I：

10.1212/01.WNL.0000166000.24321.4F

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 MRI, 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.

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收藏

页码：2148 / 2150

页数：3

相关论文

共 10 条

[1] MUTATION IN BLOOD-COAGULATION FACTOR-V ASSOCIATED WITH RESISTANCE TO ACTIVATED PROTEIN-C [J].

BERTINA, RM ;

KOELEMAN, BPC ;

KOSTER, T ;

ROSENDAAL, FR ;

DIRVEN, RJ ;

DERONDE, H ;

VANDERVELDEN, PA ;

REITSMA, PH .

NATURE, 1994, 369 (6475) :64-67

[2] The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis [J].

Fishman, D ;

Faulds, G ;

Jeffery, R ;

Mohamed-Ali, V ;

Yudkin, JS ;

Humphries, S ;

Woo, P .

JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (07) :1369-1376

[3] A CANDIDATE GENETIC RISK FACTOR FOR VASCULAR-DISEASE - A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE [J].

FROSST, P ;

BLOM, HJ ;

MILOS, R ;

GOYETTE, P ;

SHEPPARD, CA ;

MATTHEWS, RG ;

BOERS, GJH ;

DENHEIJER, M ;

KLUIJTMANS, LAJ ;

VANDENHEUVEL, LP ;

ROZEN, R .

NATURE GENETICS, 1995, 10 (01) :111-113

[4] A common polymorphism of the protein Z gene is associated with protein Z plasma levels and with risk of cerebral ischemia in the young [J].

Lichy, C ;

Kropp, S ;

Dong-Si, T ;

Genius, J ;

Dolan, T ;

Hampe, T ;

Stoll, F ;

Reuner, K ;

Grond-Ginsbach, C ;

Grau, A .

STROKE, 2004, 35 (01) :40-45

[5] Risk of stroke in young women and two prothrombotic mutations: Factor V Leiden and prothrombin gene variant (G20210A) [J].

Longstreth, WT ;

Rosendaal, FR ;

Siscovick, DS ;

Vos, HL ;

Schwartz, SM ;

Psaty, BM ;

Raghunathan, TE ;

Koepsell, TD ;

Reitsma, PH .

STROKE, 1998, 29 (03) :577-580

[6] Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease - Reversal by enzyme replacement therapy [J].

Moore, DF ;

Scott, LTC ;

Gladwin, MT ;

Altarescu, G ;

Kaneski, C ;

Suzuki, K ;

Pease-Fye, M ;

Ferri, R ;

Brady, RO ;

Herscovitch, P ;

Schiffmann, R .

CIRCULATION, 2001, 104 (13) :1506-1512

[7] Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: An arterial spin tagging study [J].

Moore, DF ;

Ye, F ;

Brennan, ML ;

Gupta, S ;

Barshop, BA ;

Steiner, RD ;

Rhead, WJ ;

Brady, RO ;

Hazen, SL ;

Schiffmann, R .

JOURNAL OF MAGNETIC RESONANCE IMAGING, 2004, 20 (04) :674-683

[8] Endothelial function and carotid intima-media thickness in young healthy subjects among endothelial nitric oxide synthase Glu298→Asp and T-786→C polymorphisms [J].

Paradossi, U ;

Ciofini, E ;

Clerico, A ;

Botto, N ;

Biagini, A ;

Colombo, MG .

STROKE, 2004, 35 (06) :1305-1309

[9] Identifying differentially expressed genes using false discovery rate controlling procedures [J].

Reiner, A ;

Yekutieli, D ;

Benjamini, Y .

BIOINFORMATICS, 2003, 19 (03) :368-375

[10] A-174G/C polymorphism of the interleukin-6 gene in patients with lacunar infarction [J].

Revilla, M ;

Obach, V ;

Cervera, A ;

Dávalos, A ;

Castillo, J ;

Chamorro, A .

NEUROSCIENCE LETTERS, 2002, 324 (01) :29-32