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Article

A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2.

BMJ case reports - 13 Dec 2020

Zonta Andrea, Brussino Alessandro, Dentelli Patrizia, Brusco Alfredo

Abstract excerpt

A 4-year-old girl was referred to the geneticist with a history of ataxia associated with intention tremor of the hands, strabismus and hypermetropy. Her symptoms presented about 2 years earlier with inability to walk unaided and lower limbs hypotonia. Cognitive functions were normal. Brain MRI showed a cerebellar and vermian hypoplasia with enlargement of both the cerebrospinal fluid spaces and the IV brain...

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Identifiers

PMID: 33318253
DOI: 10.1136/bcr-2020-238108
PMCID: PMC7737026

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