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[Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient].

Ideggyogyaszati szemle - 30 Jan 2023

Klivényi Péter, Szpisjak László, Salamon András, Németh Viola Luca, Szépfalusi Noémi, Maróti Zoltán, Kalmár Tibor, Zimmermann Aliz, Zádori Dénes

Abstract excerpt

Autosomal dominant cerebellar ataxias (ADCA), also known as spinocerebellar ataxias (SCA) are a group of progressive neurodegenerative diseases with remarkable clinical and genetic heterogeneity. In the last ten years 20 genes were identified in the background of SCAs. One of these genes was STUB1 (STIP1 homology and U-box containing protein 1) (chromosome 16p13, NM_005861.4) encoding a multifunctional E3...

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PMID: 36892293
DOI: 10.18071/isz.76.0063

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