AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
AFG3L2 gene
Late-onset cerebellar ataxia
Recessive ataxia
SPAX5
Journal
Cerebellum (London, England)
ISSN: 1473-4230
Titre abrégé: Cerebellum
Pays: United States
ID NLM: 101089443
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
accepted:
21
11
2022
medline:
20
11
2023
pubmed:
30
11
2022
entrez:
29
11
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36447112
doi: 10.1007/s12311-022-01497-y
pii: 10.1007/s12311-022-01497-y
doi:
Substances chimiques
ATPases Associated with Diverse Cellular Activities
EC 3.6.4.-
AFG3L2 protein, human
EC 3.4.24.-
ATP-Dependent Proteases
EC 3.4.21.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1313-1319Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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