PMID: 9527151Apr 4, 1998Paper

Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich's ataxia

Journal of Neurology, Neurosurgery, and Psychiatry
S R Hammans, C R Kennedy

Abstract

Ataxia with vitamin E deficiency is an autosomal recessive condition associated with a defect in the a-tocopherol transfer protein. Clinically it manifests as a progressive ataxia with a phenotype resembling that of Friedreich's ataxia. There is some evidence that progression of neurological symptoms is prevented by vitamin E therapy. A patient is described who was given a clinical diagnosis of Friedreich's ataxia. Molecular genetic analysis showed the absence of the frataxin gene expansion. Subsequent vitamin E assay showed deficiency and a diagnosis of ataxia with vitamin E deficiency was made. It is recommended that all patients with ataxia of unknown cause should have vitamin E deficiency excluded. When a diagnosis of Friedreich's ataxia is considered patients should have frataxin analysis in addition. Further, neurologists should be aware that ataxia with vitamin E deficiency may present as "mutation negative" Friedreich's ataxia.

Citations

Dec 5, 2003·Seminars in Pediatric Neurology·Michel Koenig
Sep 25, 2001·Journal of Pediatric Gastroenterology and Nutrition·J M AparicioH Escobar
Apr 1, 2006·Journal of Neurology, Neurosurgery, and Psychiatry·A J WillsG K T Holmes
Mar 19, 2016·Case Reports in Neurological Medicine·Michael Bonello, Partha Ray
Jun 15, 2007·Free Radical Biology & Medicine·Maret G Traber, Jeffrey Atkinson
Jun 23, 2004·Clinical Immunology : the Official Journal of the Clinical Immunology Society·A AslamH Chapel
Sep 5, 2019·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·R BrandsmaD A Sival

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.