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Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.

Journal of the neurological sciences - 15 Sept 2021

Chiang Han-Lin, Fuh Jong-Ling, Tsai Yu-Shuen, Soong Bing-Wen, Liao Yi-Chu, Lee Yi-Chung

Abstract excerpt

The AFG3L2 gene encodes AFG3-like protein 2, which is a subunit of human mitochondrial ATPases associated with various cellular protease activities (m-AAA). The clinical spectrum of AFG3L2 mutations is broad. Dominant AFG3L2 mutations can cause autosomal dominant spinocerebellar ataxia type 28 (SCA28), whereas biallelic AFG3L2 mutations may lead to spastic ataxia 5 (SPAX5). However, the role of AFG3L2 mutations...

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ATP-Dependent Proteases
ATPases Associated with Diverse Cellular Activities
Mutation, Missense
Phenotype
Spinocerebellar Ataxias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34333379
DOI: 10.1016/j.jns.2021.117600

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.PMID 34333379Read ↗

Expanding the Spectrum of AFG3L2 Mutations: A Case with Late-Onset Autosomal Recessive Spinocerebellar Ataxia from Iran.Semantic proximity Read ↗

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

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Spinocerebellar Ataxia Type 28 in a Chinese Pedigree: A Case Report and Literature ReviewSemantic proximity Read ↗

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.Semantic proximity Read ↗

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