ArticleNeuro-degenerative diseases2017
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
Article in Neuro-degenerative diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 36 citations in OpenAlex.
- Mitochondrial Dynamics and SLC25 Transporters in Neurodegeneration: From Mechanisms to Therapeutic Opportunities.Biomolecules · 2026Review
- From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family.Protein science : a publication of the Protein Society · 2026Review
- Lack of genetic evidence for a role of SLC25A46 in alpha-synucleinopathies.medRxiv : the preprint server for health sciences · 2026Article
- Review
- A novel mutation inPakistan journal of medical sciences · 2024Article
- Whole Genome Analysis in Consanguineous Families Reveals New Loci for Speech Sound Disorder (SSD).Genes · 2024Article
- Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.Movement disorders clinical practice · 2024Review
- A novel homozygous variant inFrontiers in pediatrics · 2024Article
- AAV-based in vivo gene therapy for neurological disorders.Nature reviews. Drug discovery · 2023Review
- The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.Life science alliance · 2023Article
- The recent advances and future perspectives of genetic compensation studies in the zebrafish model.Genes & diseases · 2023Review
- AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives.Orphanet journal of rare diseases · 2022Review
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.Biomolecules · 2021Review
- Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases.Journal of nanobiotechnology · 2021Article
- Review
- The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance.Frontiers in neuroscience · 2021Review
- The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes.Life (Basel, Switzerland) · 2020Review
- Review
- Diseases Caused by Mutations in Mitochondrial Carrier GenesBiomolecules · 2020Review
Corrections and comments
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Authors and funding
20 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundAutosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. In most cases, the cerebellar ataxia is not pure, and complicating clinical features such as pyramidal signs or extraneurological features are found.
objectiveTo identify the genetic origin of the cerebellar ataxia for 3 consanguineous North African families presenting with ARCA.
methodsGenome-wide high-density SNP genotyping and whole-exome sequencing were performed followed by Sanger sequencing for mutation confirmation.
resultsTwo variants were identified in SLC25A46. Mutations in this gene have been previously associated with Charcot-Marie-Tooth type 2 and optic atrophy. While the previously reported variant p.Arg340Cys seems to be consistently associated with the same clinical features such as childhood onset, optic atrophy, gait and speech difficulties, and wasting of the lower limbs, the patient with the novel mutation p.Trp160Ser did not present with optic atrophy and his ocular abnormalities were limited to nystagmus and saccadic pursuit.
conclusionIn this study, we report a novel variant (p.Trp160Ser) in SLC25A46 and we broaden the phenotypic spectrum associated with mutations in SLC25A46.
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