Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report
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DOI: 10.1186/s12883-024-03846-2
Abstract: Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases. The diagnosis of this disease requires genetic testing that may also include the search for CAT interruption… read more here.
Keywords: intermediate allele; large sca1; sca1 expansion; allele large ... See more keywords