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Article

Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.

International journal of molecular sciences - 30 Jan 2023

Boros Fanni Annamária, Szpisjak László, Bozó Renáta, Kelemen Evelyn, Zádori Dénes, Salamon András, Danis Judit, Kalmár Tibor, Maróti Zoltán, Molnár Mária Judit, Klivényi Péter, Széll Márta, Ádám Éva

Abstract excerpt

Spinocerebellar ataxia (SCA) 40 is an extremely rare subtype of the phenotypically and genetically diverse autosomal dominant ataxias caused by mutations of the CCDC88C gene. Most reported cases of SCA40 are characterized by late-onset cerebellar ataxia and variable extrapyramidal features; however, there is a report of a patient with early-onset spastic paraparesis as well. Here, we describe a novel missense...

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PMID: 36768938
DOI: 10.3390/ijms24032617
PMCID: PMC9916980

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