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Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient
Author(s) -
Angelini Lucia,
Erba Anna,
Mariotti Caterina,
Gellera Cinzia,
Ciano Claudia,
Nardocci Nardo
Publication year - 2002
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10026
Subject(s) - dystonia , ataxia , medicine , pediatrics , presentation (obstetrics) , vitamin e deficiency , neurological disorder , endocrinology , central nervous system disease , vitamin e , surgery , biology , psychiatry , biochemistry , antioxidant
We describe a young patient affected by vitamin E deficiency with mutation in the tocopherol tranfer protein alleles and the unique presentation as myoclonic dystonia, which was practically the only symptom for 6 years before ataxia became evident. Vitamin E supplementation markedly improved both symptoms. This unusual clinical phenotype must be considered, because isolated vitamin E deficiency is eminently treatable. © 2002 Movement Disorder Society.