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Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype - Phenotype Analysis.

Cerebellum (London, England) - 1 Dec 2024

Cunha Ganimi Maria Carolina Da, Couto Christian Marques, La Rocque Ferreira Alessandra de, Antão Paiva Carmen Lucia

Abstract excerpt

Spinocerebellar ataxias (SCAs) are a diverse group of hereditary neurodegenerative disorders characterized by progressive degeneration of the cerebellum and other parts of the nervous system. In this study, we examined the genotype‒phenotype correlations in SCAs within the Brazilian population by leveraging a comprehensive dataset of 763 individuals from SARAH Network of Rehabilitation Hospitals. Using a...

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PMID: 39317855
DOI: 10.1007/s12311-024-01745-3

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