Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke

Barbagallo, Massimo ; Pavone, Piero ; Incorpora, Gemma ; Domenico Praticò, Andrea ; Romantshik, Olga LU ; Friso, Simonetta ; Spalice, Alberto ; Nicita, Francesco ; Polizzi, Agata and Ruggieri, Martino , et al. (2009) In Child's Nervous System 25(3). p.361-365
Abstract

Background: Stroke is a rare disorder in childhood; among its risk factors, C677T mutations in the methylenetetrahydrofolate reductase (MTHFR) gene with secondary hyperhomocysteinemia are considered. Patients and methods: We report on a family in which two brothers had arterial ischemic stroke (AIS). One of these siblings came to our observation at the age of 4 years because of decreased motility of the right arm, mild hypotrophy of the right limbs, and frequent falls: brain magnetic resonance imaging revealed a large left AIS. Family history revealed that his older brother had died at the age of 7 due to AIS. An extensive metabolic investigation revealed a homozygous C677T [G80A-reduced folate carrier 1 (RFC1)] mutation in the MTHFR... (More)

Background: Stroke is a rare disorder in childhood; among its risk factors, C677T mutations in the methylenetetrahydrofolate reductase (MTHFR) gene with secondary hyperhomocysteinemia are considered. Patients and methods: We report on a family in which two brothers had arterial ischemic stroke (AIS). One of these siblings came to our observation at the age of 4 years because of decreased motility of the right arm, mild hypotrophy of the right limbs, and frequent falls: brain magnetic resonance imaging revealed a large left AIS. Family history revealed that his older brother had died at the age of 7 due to AIS. An extensive metabolic investigation revealed a homozygous C677T [G80A-reduced folate carrier 1 (RFC1)] mutation in the MTHFR gene in both the affected siblings and in their healthy older brother and heterozygous mutations in the parents. None of these family members presented hyperhomocysteinemia. Conclusions: To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygous MTHFR gene C677T (G80A-RFC1) mutations without associated hyperhomocysteinemia (the latter factor is usually considered as effector of vascular damage in patients with MTHFR C677T mutations). The pathogenic hypotheses of stroke in this family are considered.

(Less)
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; ; ; and , et al. (More)
; ; ; ; ; ; ; ; ; and (Less)
publishing date
type
Contribution to journal
publication status
published
keywords
C677T mutation, Familial, G80A RFC-1 mutation, Homocysteine, MTHFR gene, Stroke
in
Child's Nervous System
volume
25
issue
3
pages
361 - 365
publisher
Springer
external identifiers
  • pmid:18958479
  • scopus:59849086794
ISSN
0256-7040
DOI
10.1007/s00381-008-0724-3
language
English
LU publication?
no
id
7c5401f5-cc7c-40f1-a8c6-4c075d56fa48
date added to LUP
2018-11-15 13:55:47
date last changed
2024-01-15 06:55:26
@article{7c5401f5-cc7c-40f1-a8c6-4c075d56fa48,
  abstract     = {{<p>Background: Stroke is a rare disorder in childhood; among its risk factors, C677T mutations in the methylenetetrahydrofolate reductase (MTHFR) gene with secondary hyperhomocysteinemia are considered. Patients and methods: We report on a family in which two brothers had arterial ischemic stroke (AIS). One of these siblings came to our observation at the age of 4 years because of decreased motility of the right arm, mild hypotrophy of the right limbs, and frequent falls: brain magnetic resonance imaging revealed a large left AIS. Family history revealed that his older brother had died at the age of 7 due to AIS. An extensive metabolic investigation revealed a homozygous C677T [G80A-reduced folate carrier 1 (RFC1)] mutation in the MTHFR gene in both the affected siblings and in their healthy older brother and heterozygous mutations in the parents. None of these family members presented hyperhomocysteinemia. Conclusions: To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygous MTHFR gene C677T (G80A-RFC1) mutations without associated hyperhomocysteinemia (the latter factor is usually considered as effector of vascular damage in patients with MTHFR C677T mutations). The pathogenic hypotheses of stroke in this family are considered.</p>}},
  author       = {{Barbagallo, Massimo and Pavone, Piero and Incorpora, Gemma and Domenico Praticò, Andrea and Romantshik, Olga and Friso, Simonetta and Spalice, Alberto and Nicita, Francesco and Polizzi, Agata and Ruggieri, Martino and Iannetti, Paola}},
  issn         = {{0256-7040}},
  keywords     = {{C677T mutation; Familial; G80A RFC-1 mutation; Homocysteine; MTHFR gene; Stroke}},
  language     = {{eng}},
  month        = {{03}},
  number       = {{3}},
  pages        = {{361--365}},
  publisher    = {{Springer}},
  series       = {{Child's Nervous System}},
  title        = {{Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke}},
  url          = {{http://dx.doi.org/10.1007/s00381-008-0724-3}},
  doi          = {{10.1007/s00381-008-0724-3}},
  volume       = {{25}},
  year         = {{2009}},
}