ArticleAnnals of clinical and translational neurology2020
Expanding the clinical and genetic heterogeneity of SPAX5.
Article in Annals of clinical and translational neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Neurodevelopmental disorders in childhood-onset hereditary spastic paraplegia type 7: a case series and review of literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- Expanding the Spectrum of AFG3L2 Mutations: A Case with Late-Onset Autosomal Recessive Spinocerebellar Ataxia from Iran.Cerebellum (London, England) · 2026Article
- Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia.Movement disorders clinical practice · 2025Article
- HRI protein kinase in cytoplasmic heme sensing and mitochondrial stress response: Relevance to hematological and mitochondrial diseases.The Journal of biological chemistry · 2025Review
- SCAR32: Functional characterization and expansion of the clinical-genetic spectrum.Annals of clinical and translational neurology · 2024Article
- Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.Molecular neurobiology · 2024Review
- Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.Brain : a journal of neurology · 2024Article
- AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.Cerebellum (London, England) · 2023Article
- A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.Journal of neurology · 2023Article
- Novel compound heterozygous mutations in theHeliyon · 2023Article
- Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant inMovement disorders clinical practice · 2022Article
- Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.Journal of neurology · 2022Article
- New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQJournal of neurology · 2021Article
- NGS in Hereditary Ataxia: When Rare Becomes Frequent.International journal of molecular sciences · 2021Article
- Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations.Annals of clinical and translational neurology · 2020Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the ATPase family 3-like gene (AFG3L2) have been linked to autosomal-dominant spinocerebellar ataxia type 28 and autosomal recessive spastic ataxia-neuropathy syndrome. Here, we describe the case of a child carrying bi-allelic mutations in AFG3L2 and presenting with ictal paroxysmal episodes associated with neuroimaging suggestive of basal ganglia involvement. Studies in skin fibroblasts showed a significant reduction of AFG3L2 expression. The relatively mild clinical presentation and the benign course, in spite of severe neuroimaging features, distinguish this case from data reported in the literature, and therefore expand the spectrum of neurological and neuroradiological features associated with AFG3L2 mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.