ArticleJournal of movement disorders2015
Ataxia with vitamin e deficiency in norway.
Article in Journal of movement disorders, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 29 citations in OpenAlex.
- A TTPA deletion is associated with retinopathy with vitamin E deficiency in the English Cocker Spaniel dog.G3 (Bethesda, Md.) · 2025Article
- Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series.Cerebellum (London, England) · 2025Article
- Vitamin E - a scoping review for Nordic Nutrition Recommendations 2023.Food & nutrition research · 2023Article
- Fat-soluble vitamins: updated review of their role and orchestration in human nutrition throughout life cycle with sex differences.Nutrition & metabolism · 2022Review
- Treatable Ataxias: How to Find the Needle in the Haystack?Journal of movement disorders · 2022Article
- Clinical and genetic study of ataxia with vitamin E deficiency: A case report.World journal of clinical cases · 2022Article
- Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review.Pharmaceuticals (Basel, Switzerland) · 2022Review
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Nutrition Can Help DNA Repair in the Case of Aging.Nutrients · 2020Review
- Essential tremor: the most common form of cerebellar degeneration?Cerebellum & ataxias · 2020Review
- Subacute combined degeneration associated with vitamin E deficiency due to small bowel obstruction: A case report.Medicine · 2019Article
- Vitamin E and Alzheimer's disease: what do we know so far?Clinical interventions in aging · 2019Review
- Review
- Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation).Italian journal of pediatrics · 2017Article
- Progressive ataxia due to alpha-tocopherol deficiency in Pakistan.Iranian journal of neurology · 2016Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveAtaxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in childhood. The clinical presentation is very similar to Friedreich ataxia, most patients have progressive truncal and extremity ataxia, areflexia, positive Babinski sign, dysarthria and sensory neuropathy.
methodsWe made an inquiry to our colleagues in Norway, we included information from a prevalence study published southern Norway and added data from our own known case.
resultsA newly published prevalence study of hereditary ataxias (total of 171 subjects) found only one subject with AVED in Southeast Norway. We describe two more patients, one from the Central part and one from the Northern part of Norway. All 3 cases had age of onset in early childhood (age of 4-5 years) and all experienced gait ataxia and dysarthria. The genetic testing confirmed that they had pathogenic mutations in the α-tocopherol transfer protein gene (TTPA). All were carriers of the non-sense c.400C > T mutation, one was homozygous for that mutation and the others were compound heterozygous, either with c.358G > A or c.513_514insTT. The homozygous carrier was by far the most severely affected case.
conclusionsWe estimate the occurrence of AVED in Norway to be at least 0.6 per million inhabitants. We emphasize that all patients who develop ataxia in childhood should be routinely tested for AVED to make an early diagnosis for initiating treatment with high dose vitamin E to avoid severe neurological deficits.
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