Corrales-Arroyo MJ, Del Real-Francia MÁ, Valencia-Guadalajara C, López-García A, Giraldo-Restrepo N, López-Gallardo G

Language: Spanish
References: 17
Page: 48-53
PDF size: 132.58 Kb.

ABSTRACT

Introduction: The CADASIL is the acronym for a systemic arteriopathy of autosomal dominant inheritance, whose genetic alteration is located in the NOTCH3 gene, on chromosome 19. It is characterized by the appearance of symptoms of repeat migraine attacks, usually with aura, stroke recurrence, as well as cognitive impairment of subcortical type.
Case report: We present the case of a patient who suffered from migraine type headache from several years. Later the syndrome was associated with a profile consisting of hemiparesis and hemihipoestesia. A new mutation for this disease, located at codon 592, exon 11 of the Nocht-3 gene was identified in the genetic study.
Conclusion: The present paper communicates a case of CADASIL patients who is carrier of a new mutation, not previously described in the literature.

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