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

Authors
Schuelke, M Mayatepek, E Inter, M Becker, M Pfeiffer, E Speer, A Hubner, C Finckh, B
Citation
M. Schuelke et al., Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency, J PEDIAT, 134(2), 1999, pp. 240-244
Citations number
23
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
JOURNAL OF PEDIATRICS
ISSN journal
00223476 → ACNP
Volume
134
Issue
2
Year of publication
1999
Pages
240 - 244
Database
ISI
SICI code
0022-3476(199902)134:2<240:TOAIIV>2.0.ZU;2-X
Abstract
Dysfunction of the alpha-tocopherol transfer protein causes ataxia with iso lated vitamin E deficiency. A 14-year-old male patient presented with ataxi a and mental symptoms caused by a homozygous (552G-->A) alpha-tocopherol tr ansfer protein mutation. After initiation of high-dosage alpha-tocopherol t herapy, the organic mental syndrome disappeared and cognitive function impr oved rapidly. Neurologic recovery, however, was slow and incomplete.