A Patient with Combined CADASIL and MTHFR Homozygosity

Case Reports in Neurological Medicine
Sidonie IbrikjiBassem Yamout

Abstract

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited disorder caused by a mutation in the NOTCH 3 gene, characterized by early onset of subcortical lacunar infarcts in the absence of vascular risk factors and cerebral microbleeds. Homozygosity for the factor Methylenetetrahydrofolate Reductase (MTHFR) is also associated with lacunar stroke risk and cerebral small-vessel disease regardless of the homocysteine level. The coexistence of MTHFR C677T homozygosity and NOTCH 3 mutation has never been reported in the literature previously, and that brings up the challenge of antithrombotic treatment in the presence of cerebral microbleeds.

References

Sep 30, 2005·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·D MandellosD Anastasopoulos
Jun 23, 2009·Lancet Neurology·Hugues ChabriatMarie-Germaine Bousser
Apr 24, 2010·Stroke; a Journal of Cerebral Circulation·Meng LeeJeffrey L Saver
Jul 18, 2016·Journal of the Neurological Sciences·Hussam Abou Al-ShaarSaeed Bohlega
Jul 26, 2017·Current Treatment Options in Neurology·Anna BersanoEugenio Agostino Parati

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