released
December 12th, 2019 at 12:21am
Details
Details
definition
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid-adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy. (EFO)
namespace
http://www.ebi.ac.uk/efo
preferred_name
spinocerebellar ataxia 48
source_ontologies
term_id
EFO:0010251
term_name
spinocerebellar ataxia 48
term_url
http://www.ebi.ac.uk/efo/EFO_0010251