ArticleWorld journal of clinical cases2022
Autosomal recessive spinocerebellar ataxia type 4 with a
Article in World journal of clinical cases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Ribo-ITP enables identification of translons from limited input samples.Nature communications · 2026Article
- VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.Cerebellum (London, England) · 2025Article
- Microglia promote inflammatory cell death upon neuronal mitochondrial impairment during neurodegeneration.Nature structural & molecular biology · 2025Article
- VPS13D mutations affect mitochondrial homeostasis and locomotion in Caenorhabditis elegans.G3 (Bethesda, Md.) · 2025Article
- A Novel Mutation of VPS13D-related Disorders with Parkinsonism.Internal medicine (Tokyo, Japan) · 2024Article
- Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum inInternational journal of molecular sciences · 2023Review
- An optimized temporally controlled Gal4 system inFrontiers in neuroscience · 2023Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal recessive spinocerebellar ataxia type 4 (SCAR4) is a type of SCA that is a group of hereditary diseases characterized by gait ataxia. The main clinical features of SCAR4 are progressive cerebellar ataxia, pyramidal signs, neuropathy, and macrosaccadic intrusions. To date, many gene dysfunctions have been reported to be associated with SCAR4. CASE SUMMARY: Here, we report a novel compound heterozygous mutation, c.3288delA (p.Asp1097ThrfsTer6), in the
conclusionSCAR4 is a hereditary disease characterized by ataxia, pyramidal signs, neuropathy, and macrosaccadic intrusions. We report a novel compound heterozygous mutation, c.3288delA (p.Asp1097ThrfsTer6), in the
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Registered trials
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