Article
Current Overview of Spinocerebellar Ataxia Type 7 in Mexican Population: Challenges in Specialized Care for a Rare Disease.
International journal of molecular sciences - 6 Oct 2024
Cerecedo-Zapata César M, Tapia-Guerrero Yessica S, Ramírez-González José A, Meza-Dorantes Aranza, Tercero-Pérez Karla N, Cortés Hernán, Guerra-Grajeda Araceli, Ortega-Ibarra Ilse H, Gatica-Ramos Gabriela, Poblete-Velazquez Alfredo, Leyva-García Norberto, Velázquez-Pérez Luis, Cisneros Bulmaro, Magaña Jonathan J
Abstract excerpt
Spinocerebellar ataxia type 7 (SCA7) is a rare genetic disease characterized by progressive cerebellar syndrome and macular degeneration. In a previous study, we clinically and genetically characterized a group of Mexican patients, which represented one of the largest cohorts of SCA7 patients worldwide and demonstrated that all patients had a unique genetic origin. Our laboratory developed a program for the...
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