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

Cerebellum (London, England) - 2 Apr 2026

Salari Mehri, Sadeghzadeh Sara, Etemadifar Masoud

Abstract excerpt

Spastic ataxia type 5 (SPAX5) is a rare autosomal-recessive neurodegenerative disorder caused by AFG3L2 mutations affecting the mitochondrial m-AAA protease complex. previously reported cases presented in early childhood with seizures and developmental delay. We report a 38-year-old woman with progressive gait ataxia, dystonia, dysmetria, scanning speech, and hyperreflexia. Brain MRI revealed cerebellar atrophy,...

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Identifiers

PMID: 41922636
DOI: 10.1007/s12311-026-01990-8

Genes

AFG3L2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Expanding the Spectrum of AFG3L2 Mutations: A Case with Late-Onset Autosomal Recessive Spinocerebellar Ataxia from Iran.PMID 41922636Read ↗

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