- 同
- ataxia with isolated vitamin E deficiency
UpToDate Contents
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English Journal
- Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency.
- Rossato M1, Mariotti C.
- Andrologia.Andrologia.2014 Apr;46(3):322-4. doi: 10.1111/and.12076. Epub 2013 Feb 28.
- Vitamin E possesses potent beneficial effects on mammalian spermatogenesis and sperm quality. Subjects affected by cerebellar ataxia due to congenital isolated vitamin E deficiency (AVED) show vitamin E deficiency caused by a selective impaired gastrointestinal absorption of vitamin E for a mutation
- PMID 23445347
- Vitamin E is essential for Purkinje neuron integrity.
- Ulatowski L1, Parker R2, Warrier G3, Sultana R3, Butterfield DA3, Manor D4.
- Neuroscience.Neuroscience.2014 Feb 28;260:120-9. doi: 10.1016/j.neuroscience.2013.12.001. Epub 2013 Dec 14.
- α-Tocopherol (vitamin E) is an essential dietary antioxidant with important neuroprotective functions. α-Tocopherol deficiency manifests primarily in neurological pathologies, notably cerebellar dysfunctions such as spinocerebellar ataxia. To study the roles of α-tocopherol in the cerebellum, we
- PMID 24342566
- Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.
- El Euch-Fayache G1, Bouhlal Y, Amouri R, Feki M, Hentati F.
- Brain : a journal of neurology.Brain.2014 Feb;137(Pt 2):402-10. doi: 10.1093/brain/awt339. Epub 2013 Dec 25.
- Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the α-tocopherol transfer protein coding gene localized on chromosome 8q, leading to lower levels of serum vitamin E. More than 91 patients diagnosed with ataxia with vitamin E deficiency have been r
- PMID 24369383
Japanese Journal
- Current Status and Trends in the Treatment of Acute Pulmonary Thromboembolism
- Circulation journal : official journal of the Japanese Circulation Society 75(12), 2731-2738, 2011-11-25
- NAID 10030032798
- 家族性特発性ビタミンE欠乏症の発見と発症機序の解明および治療法の確立
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- 英
- spinocerebellar degeneration SCD, spinocerebellar ataxia SCA
- 関
- 難病
概念
分類
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- spinocerebellar ataxia(SCA) type 1-17
参考
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