Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation

Neurol Sci. 2016 Sep;37(9):1571-2. doi: 10.1007/s10072-016-2561-6. Epub 2016 Mar 28.

Authors

Giuseppe Zelante¹, Francesco Patti¹, Luisa Vinciguerra¹, Cinzia Gellera², Mario Zappia³

Affiliations

¹ Section of Neurosciences, Department G.F. Ingrassia, University of Catania, Via Santa Sofia, 78, 95123, Catania, Italy.
² Department of Biochemistry and Genetics, C. Besta National Neurological Institute, Milan, Italy.
³ Section of Neurosciences, Department G.F. Ingrassia, University of Catania, Via Santa Sofia, 78, 95123, Catania, Italy. [email protected].

PMID: 27021565
DOI: 10.1007/s10072-016-2561-6

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Ataxia / complications*
Ataxia / genetics*
Carrier Proteins / genetics*
DNA Mutational Analysis
Female
Humans
Vitamin E Deficiency / complications*
Vitamin E Deficiency / genetics*

Substances

Carrier Proteins
alpha-tocopherol transfer protein