ArticleEuropean journal of human genetics : EJHG2014
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 45 citations in OpenAlex.
- Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants.Nature genetics · 2026Article
- Impaired motor activity in a CRISPR SCA5 L253P knock-in mouse is associated with selective β-III-spectrin subcellular redistribution in the cerebellum.bioRxiv : the preprint server for biology · 2026Article
- Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrin.bioRxiv : the preprint server for biology · 2024Article
- Spinocerebellar Ataxia Type 5 (SCA5) Mimicking Cerebral Palsy: a Very Early Onset Autosomal Dominant Hereditary Ataxia.Cerebellum (London, England) · 2023Article
- Spectrins: molecular organizers and targets of neurological disorders.Nature reviews. Neuroscience · 2023Review
- A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia.Human genome variation · 2022Article
- Highly efficient manipulation of nervous system gene expression with NEPTUNE.Cell reports methods · 2021Article
- Heterozygous variants in SPTBN1 cause intellectual disability and autism.American journal of medical genetics. Part A · 2021Article
- Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.Annals of clinical and translational neurology · 2021Article
- Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.International journal of molecular sciences · 2021Article
- A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant inBMJ case reports · 2020Article
- Review
- Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.European journal of human genetics : EJHG · 2018Article
- Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias.Journal of genetics · 2018Article
- A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.Cerebellum (London, England) · 2018Review
- Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.American journal of human genetics · 2016Article
- Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.The Journal of physiology · 2016Review
- Neurometabolic disorders: Five new things.Neurology. Clinical practice · 2016Review
- Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Journal of neurology · 2015Review
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11 authors at 6 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Although many genes have been identified for the autosomal recessive cerebellar ataxias (ARCAs), several patients are unlinked to the respective loci, suggesting further genetic heterogeneity. We combined homozygosity mapping and exome sequencing in a consanguineous Egyptian family with congenital ARCA, mental retardation and pyramidal signs. A homozygous 5-bp deletion in SPTBN2, the gene whose in-frame mutations cause autosomal dominant spinocerebellar ataxia type 5, was shown to segregate with ataxia in the family. Our findings are compatible with the concept of truncating SPTBN2 mutations acting recessively, which is supported by disease expression in homozygous, but not heterozygous, knockout mice, ataxia in Beagle dogs with a homozygous frameshift mutation and, very recently, a homozygous SPTBN2 nonsense mutation underlying infantile ataxia and psychomotor delay in a human family. As there was no evidence for mutations in 23 additional consanguineous families, SPTBN2-related ARCA is probably rare.
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