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Article

A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.

Cerebellum (London, England) - 1 Jun 2014

Musova Zuzana, Kaiserova Michaela, Kriegova Eva, Fillerova Regina, Vasovcak Peter, Santava Alena, Mensikova Katerina, Zumrova Alena, Krepelova Anna, Sedlacek Zdenek, Kanovsky Petr

Abstract excerpt

Spinocerebellar ataxia type 28 (SCA28) is an autosomal dominant neurodegenerative disorder caused by missense AFG3L2 mutations. To examine the occurrence of SCA28 in the Czech Republic, we screened 288 unrelated ataxic patients with hereditary (N = 49) and sporadic or unknown (N = 239) form of ataxia for mutations in exons 15 and 16, the AFG3L2 mutation hotspots. A single significant variant, frameshift mutation...

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PMID: 24272953
DOI: 10.1007/s12311-013-0538-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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