Premium
The factor V G1691A mutation is a risk for porencephaly: A case–control study
Author(s) -
Debus Otfried M.,
Kosch Andrea,
Sträter Ronald,
Rossi Rainer,
NowakGöttl Ulrike
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20184
Subject(s) - porencephaly , methylenetetrahydrofolate reductase , factor v , antithrombin , medicine , risk factor , mutation , protein c , gastroenterology , genotype , genetics , biology , thrombosis , heparin , pathology , gene
This study was initiated to investigate prothrombotic risk factors in children with porencephaly. 76 porencephalic and 76 healthy infants were investigated for factor V (FV) G1691A mutation, factor II G20210A variant, methylenetetrahydrofolate reductase (MTHFR) C677T genotype, lipoprotein (a), protein C, protein S, and antithrombin. Only the FV mutation ( p = 0.005) and combinations of two or three different risk factors ( p = 0.003) were significantly associated with porencephaly. These data give evidence that the FV G1691A mutation and a combination of prothromboic factors play a major role in the development of childhood porencephaly. Ann Neurol 2004.