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Article

AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.

Cerebellum (London, England) - 1 Dec 2023

Colucci Fabiana, Neri Marcella, Fortunato Fernanda, Ferlini Alessandra, Carrozzo Rosalba, Torraco Alessandra, Lamantea Eleonora, Legati Andrea, Tecilla Ginevra, Pugliatti Maura, Sensi Mariachiara

Abstract excerpt

AFG3-like matrix AAA peptidase subunit 2 gene (AFG3L2, OMIM * 604,581) biallelic mutations lead to autosomal recessive spastic ataxia-5 SPAX5, OMIM # 614,487), a rare hereditary form of ataxia. The clinical spectrum includes early-onset cerebellar ataxia, spasticity, and progressive myoclonic epilepsy (PME). In Italy, the epidemiology of the disease is probably underestimated. The advent of next generation...

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PMID: 36447112
DOI: 10.1007/s12311-022-01497-y

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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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