Possible Role of a Missense Mutation of p.P167S on Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

BACKGROUND

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the gene, located on chromosome 19p13. encodes a transmembrane receptor which plays a role in cellular differentiation and cell cycle regulation.

CASE REPORT

A 71-year-old female showing headache and memory impairment, familial history of stroke and having a missense mutation from proline to serine at codon 167 in the exon 4 on gene. Five family members revealed the same mutation (c.499C>T), who presented migrainous headache and stroke. In this study, we have uncovered a novel mutation at the nucleotide position 499 (c.499C>T; p.P167S) in a family with CADASIL.

CONCLUSIONS

We suggested a missense mutation of proline to serine at codon 167 in exon 4 of the gene, which resulted in the substitution of cytosine to thymine (c.499C>T) resulting migraine, stroke and vascular cognitive impairment.