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

Autor:	Wong-Valenzuela, Emilio Israel, San Juan, Daniel, Santos Zambrano, José, Camacho Molina, Alejandra, Morales-Morales, Miguel Angel, Lopez-Landa, Alejandro
Předmět:	ISCHEMIC stroke GENETIC mutation YOUNG adults STROKE patients LEUKODYSTROPHY
Zdroj:	Case Reports in Genetics; 8/30/2023, p1-4, 4p
Abstrakt:	Introduction. 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. Case Presentation. We presented a Mexican young female with leukodystrophy and recurrent stroke secondary to COL4A1 monogenic mutation. Discussion/Conclusion. 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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.