| http://purl.uniprot.org/citations/15300460 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15300460 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15300460 | http://www.w3.org/2000/01/rdf-schema#comment | "Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disorder due to mutations in the alpha-tocopherol transfer protein (TTPA) gene on chromosome 8q13. AVED patients have progressive spinocerebellar symptoms and markedly reduced plasma levels of vitamin E. We studied neurological phenotype at diagnosis, and long-term effect of vitamin E supplementation in 16 patients from 12 Italian families. The most common mutations were the 744delA and 513insTT. Two novel TTPA mutations were identified: a severe truncating mutation (219insAT) in a homozygous patient, and a Gly246Arg missense mutation (G246R) in a compound heterozygous patient. The missense mutation was associated with a mild and slowly progressive form of the disease. Vitamin E supplementation therapy allowed a stabilization of the neurological conditions in most of the patients. However, development of spasticity and retinitis pigmentosa was noted in a few patients during therapy. Prompt genetic characterization of AVED patients may allow an effective early treatment and an adequate genetic counseling."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10072-004-0246-z"xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10072-004-0246-z"xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Uziel G."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Uziel G."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Castellotti B."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Castellotti B."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Di Donato S."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Di Donato S."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Gellera C."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Gellera C."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Mariotti C."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Mariotti C."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Pareyson D."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Pareyson D."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Squitieri F."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Squitieri F."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Rimoldi M."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Rimoldi M."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Zorzi G."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Zorzi G."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Piccolo G."xsd:string |
| http://purl.uniprot.org/citations/15300460 | http://purl.uniprot.org/core/author | "Piccolo G."xsd:string |