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Ataxia with isolated vitamin E deficiency: A Japanese family carrying a novel mutation in the α‐tocopherol transfer protein gene
Author(s) -
Hoshino Masataka,
Masuda Naoki,
Ito Yasuhiko,
Murata Miho,
Goto Jun,
Sakurai Masaki,
Kanazawa Ichiro
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199906)45:6<809::aid-ana19>3.0.co;2-9
Subject(s) - vitamin e deficiency , proband , ataxia , mutation , genetics , gene , tocopherol , biology , gene mutation , alpha tocopherol , vitamin e , microbiology and biotechnology , biochemistry , antioxidant , neuroscience
We report a Japanese family with ataxia with isolated vitamin E deficiency (AVED). Gene analysis revealed a single nucleotide substitution of T to C at nucleotide position 2 in the α‐tocopherol transfer protein gene ( TTPA ). This substitution abolishes the start codon. The proband and his affected sister were homozygous for this mutation, and their serum α‐tocopherol concentrations were remarkably reduced. Relations between the mutations and clinical features are discussed. Ann Neurol 1999;45:809–812