ArticleWorld journal of clinical cases2022
Clinical and genetic study of ataxia with vitamin E deficiency: A case report.
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 4 papers.
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Who cites it
4 citing papers in PubMed.
- A TTPA deletion is associated with retinopathy with vitamin E deficiency in the English Cocker Spaniel dog.G3 (Bethesda, Md.) · 2025Article
- Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India.Journal of movement disorders · 2024Article
- Isolated Head Tremor as an Initial Presentation of Ataxia with Vitamin E Deficiency: A Case Report.Movement disorders clinical practice · 2023Article
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Authors and funding
3 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundAtaxia with vitamin E deficiency (AVED) is a type of autosomal recessive cerebellar ataxia. Clinical manifestations include progressive cerebellar ataxia and movement disorders. CASE SUMMARY: We report the case of a 32-year-old woman who presented with progressive cerebellar ataxia, dysarthria, dystonic tremors and a remarkably decreased serum vitamin E concentration. Brain magnetic resonance images showed that her brainstem and cerebellum were within normal limits. Acquired causes of ataxia were excluded. Whole exome sequencing subsequently identified a novel homozygous variant (c.473T>C, p.F158S) of the
conclusionWe identified an AVED patient caused by novel mutation in
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