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Ataxia with vitamin E deficiency and severe dystonia: report of a case |
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| Authors: | Roubertie Agathe Biolsi Brigitte Rivier François Humbertclaude Véronique Cheminal Renée Echenne Bernard |
| Affiliation: | 1. Department of Paediatric Neurology, Evelina''s Children Hospital, Guy''s & St. Thomas'' Hospital NHS Foundation Trust, London, UK;2. Department of Neurophysiology, Great Ormond Street Hospital for Children, London, UK;3. Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, London, UK;4. Department of Neuropathology, King''s College Hospital, London, UK;5. Department of Clinical Genetics, Guy''s Hospital, London, UK;6. Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King''s College, London, UK;7. Department of Basic and Clinical Neuroscience Division, IoPPN, King''s College, London, UK |
| Abstract: | Mutation of the gene for alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency, a disorder usually stabilized or improved after vitamin E supplementation. Dystonia has rarely been described in ataxia with isolated vitamin E deficiency (AVED) patients. We present the case of a young boy with AVED, whose neurological and extra-neurological cardinal symptoms of the disease improved after vitamin E supplementation but who progressively developed generalized dystonia. |
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