AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients

• DOI: 10.1007/s12311-022-01497-y
• Publication Date: 2022-11-30T06:47:38Z
• Authors: Fabiana Colucci; Marcella Neri; Fernanda Fortunato; Alessandra Ferlini; Rosalba Carrozzo; Alessandra Torraco; Eleonora Lamantea; Andrea Legati; Ginevra Tecilla; Maura Pugliatti; Mariachiara Sensi
• Keywords: 0301 basic medicine; 03 medical and health sciences; Cerebellar Ataxia; Italy; ATP-Dependent Proteases; AFG3L2 gene; Late-onset cerebellar ataxia; Recessive ataxia; SPAX5; Mutation; Humans; ATPases Associated with Diverse Cellular Activities; Spinocerebellar Degenerations; 3. Good health

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 sequencing (NGS) technologies has speeded up the diagnosis of hereditary diseases and increased the percentage of diagnosis of rare disorders, such as the rare hereditary ataxia groups. Here, we describe two patients from two different villages in the province of Ferrara, who manifested a different clinical ataxia-plus history, although carrying the same biallelic mutation in AFG3L2 (p.Met625Ile) identified through NGS analysis.