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Literature DB >> 31970222

Ataxia with Vitamin E Deficiency with Predominant Cervical Dystonia.

Swati Pradeep¹, Tarek Ali², Zain Guduru².

Abstract

Entities: Disease

Keywords: AVED; ataxia with vitamin E deficiency; autosomal recessive ataxia; dystonia; movement disorders

Year: 2019 PMID： 31970222 PMCID： PMC6962681 DOI： 10.1002/mdc3.12871

Source DB: PubMed Journal: Mov Disord Clin Pract ISSN： 2330-1619

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References

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14 in total

1. alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia.

Authors: Y Tamaru; M Hirano; H Kusaka; H Ito; T Imai; S Ueno
Journal: Neurology Date: 1997-08 Impact factor: 9.910

2. Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.

Authors: M Schuelke; E Mayatepek; M Inter; M Becker; E Pfeiffer; A Speer; C Hübner; B Finckh
Journal: J Pediatr Date: 1999-02 Impact factor: 4.406

3. Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

Authors: L Cavalier; K Ouahchi; H J Kayden; S Di Donato; L Reutenauer; J L Mandel; M Koenig
Journal: Am J Hum Genet Date: 1998-02 Impact factor: 11.025

4. Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene.

Authors: T Yokota; T Shiojiri; T Gotoda; M Arita; H Arai; T Ohga; T Kanda; J Suzuki; T Imai; H Matsumoto; S Harino; M Kiyosawa; H Mizusawa; K Inoue
Journal: Ann Neurol Date: 1997-06 Impact factor: 10.422

Ataxia with Vitamin E Deficiency with Predominant Cervical Dystonia.

1. alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia.

2. Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.

3. Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

4. Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene.

5. Isolated vitamin E deficiency.

6. The wobbly child: an approach to inherited ataxias.

7. Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up.

8. Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.

9. Ataxia with vitamin E deficiency and severe dystonia: report of a case.

Review 10. More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.