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Article

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.

Neurology - 10 Jun 2014

Smets Katrien, Deconinck Tine, Baets Jonathan, Sieben Anne, Martin Jean-Jacques, Smouts Iris, Wang Shuaiyu, Taroni Franco, Di Bella Daniela, Van Hecke Wim, Parizel Paul M, Jadoul Christina, De Potter Robert, Couvreur Francine, Rugarli Elena, De Jonghe Peter

Abstract excerpt

OBJECTIVE: To identify the genetic cause of autosomal dominant spinocerebellar ataxia type 28 (SCA28) with ptosis in 2 Belgian families without AFG3L2 point mutations and further extend the clinical spectrum of SCA28 through the study of a brain autopsy, advanced MRI, and cell-based functional as...

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PMID: 24814845
DOI: 10.1212/WNL.0000000000000491

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24814845-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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