ArticleAdvanced biomedical research2023
A Rare Case of Spinocerebellar Ataxia Autosomal Recessive 21 Presented with Liver Disease.
Article in Advanced biomedical research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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1 citing paper in PubMed, 0 citations in OpenAlex.
- Recurrent acute liver failure in infancy - a novelWorld journal of clinical pediatrics · 2026Article
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Authors and funding
3 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Spinocerebellar ataxia autosomal recessive 21 is known as a very rare disease. It is caused by a homozygous mutation in the SCYL1 gene on chromosome 11q13 and presented in early childhood. The common presentations of this disease are recurrent episodes of liver failure, chronic liver fibrosis, cerebellar atrophy in early childhood, late onset of learning disabilities, and peripheral neuropathy. Diagnosis of spinocerebellar ataxia autosomal recessive 21 is challenging, especially due to the variety of clinical presentations. In the current study, we present an 11-year-old girl diagnosed with spinocerebellar ataxia autosomal recessive 21. She had multiple episodes of acute hepatic failure with later presentations of neurological dysfunctions. The diagnosis of spinocerebellar ataxia autosomal recessive 21 was made by genetic testing.
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