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Article

A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.

Journal of molecular neuroscience : MN - 1 Apr 2014

Löbbe Anna Mareike, Kang Jun-Suk, Hilker Rüdiger, Hackstein Holger, Müller Ulrich, Nolte Dagmar

Abstract excerpt

SCA28 is caused by mutations in the AFG3L2 gene. This gene encodes a subunit of the mitochondrial metalloprotease AFG3L2 (AFG3-like protein 2). Clinical features of SCA28 include slow to moderate progressive ataxia, dysarthria, and additional symptoms such as nystagmus, slow saccades, and increased deep tendon reflexes. Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a...

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PMID: 24293060
DOI: 10.1007/s12031-013-0187-1

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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