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Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America. | LitMetric

. Monogenic mutations as the cause of recurrent ischemic cerebral small-vessel disease with leukodystrophy are rare. COL4A1 gene mutations are a relatively new etiology of cerebrovascular lesions in young adults; however, any patient has been reported from Latin America. . We presented a Mexican young female with leukodystrophy and recurrent stroke secondary to COL4A1 monogenic mutation. . COL4A1 monogenic mutations are associated with cerebral small-vessel disease and other systemic manifestations. To date, there is little evidence to justify the treatment and prevention of recurrent strokes in patients with this mutation.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10482535PMC
http://dx.doi.org/10.1155/2023/6614837DOI Listing

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