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

Massimo Barbagallo1, Piero Pavone, Gemma Incorpora

  • 1Department of Pediatrics, University of Catania, Catania, Italy.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|October 30, 2008
PubMed

Insights

Childhood stroke can be linked to MTHFR gene mutations. This study identifies a family with multiple arterial ischemic stroke (AIS) patients who have homozygous MTHFR C677T mutations but lack hyperhomocysteinemia.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Childhood stroke (arterial ischemic stroke - AIS) is uncommon.
  • Methylenetetrahydrofolate reductase (MTHFR) gene C677T mutations are potential risk factors, often associated with hyperhomocysteinemia.

Observation:

  • A family with two brothers diagnosed with AIS was studied.
  • One sibling presented at age 4 with neurological deficits; his older brother had died at age 7 from AIS.
  • Genetic analysis revealed homozygous MTHFR gene C677T (G80A-RFC1) mutations in affected siblings and a healthy older brother, with heterozygous mutations in parents.

Findings:

  • This is the first reported family with multiple AIS patients carrying homozygous MTHFR gene C677T (G80A-RFC1) mutations.
  • Crucially, none of the affected family members exhibited hyperhomocysteinemia, a condition typically linked to MTHFR mutations and vascular damage.

Implications:

  • The findings challenge the established role of hyperhomocysteinemia as the sole mediator of vascular damage in MTHFR C677T-associated stroke.
  • Further research is needed to elucidate alternative pathogenic mechanisms for stroke in individuals with these specific MTHFR mutations.
Abstract

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