Diagnostic approach to hereditary ataxias in Peru

• Autores: Yerba-Coanqui, Andree, Gutierrez-Arratia , Jesus, Sarapura-Castro, Elison, Rivera-Valdivia , Andrea, Illanes-Manrique, Maryenela, Araujo-Aliaga, Ismael, Saldarriaga-Mayo, Ana, Rodriguez , Richard S., Cornejo-Olivas, Mario
• Formato: artículo
• Fecha de Publicación: 2026
• Institución: Universidad Peruana Cayetano Heredia
• Repositorio: Revistas - Universidad Peruana Cayetano Heredia
• Lenguaje: español
• OAI Identifier: oai:revistas.upch.edu.pe:article/6254
• Enlace del recurso: https://revistas.upch.edu.pe/index.php/RNP/article/view/6254
• Nivel de acceso: acceso abierto
• Materia: hereditary ataxias; diagnosis; differential diagnosis; spinocerebellar ataxias; spinocerebellar degenerations; ataxias hereditarias; diagnóstico; diagnóstico diferencial; ataxias espinocerebelosas; degeneraciones espinocerebelosas

Hereditary ataxias represent a diverse group of neurogenetic disorders characterized by impairments in motor coordination due to dysfunction of the cerebellum or its associated pathways. These diseases include autosomal dominant, recessive, X-linked, and mitochondrial forms. The diagnosis and management of hereditary ataxias are complex and face additional challenges in resource-limited regions such as Peru and other Latin American countries. This review proposes a structured diagnostic approach for hereditary ataxias based on five key pillars: (1) confirmation of the type of ataxia (cerebellar or non-cerebellar), (2) age of onset, (3) mode of presentation (predominantly pure or plus), (4) family history, and (5) exclusion of reversible or secondary causes. The most useful ancillary test/procedures for differential diagnosis depending on the information from the 5 axes include serum analyses, neuroimaging, neurophysiological studies, neuro-ophthalmological evaluations, vestibular testing, and genetic studies (specific gene testing, genetic panels, exome sequencing, and clinical genome analysis). Implementing a diagnostic approach based on these pillars optimizes both the diagnosis and clinical management of hereditary ataxias, especially in resource-limited settings.