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Ataxia and retinitis pigmentosa with isolated vitamin E deficiency

MedGen UID:
865100
•Concept ID:
C4016663
•
Finding
Synonym: ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
 
OMIM®: 600415

Recent clinical studies

Etiology

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.
Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S
Neurol Sci 2004 Jul;25(3):130-7. doi: 10.1007/s10072-004-0246-z. PMID: 15300460

Diagnosis

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.
Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S
Neurol Sci 2004 Jul;25(3):130-7. doi: 10.1007/s10072-004-0246-z. PMID: 15300460

Therapy

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.
Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S
Neurol Sci 2004 Jul;25(3):130-7. doi: 10.1007/s10072-004-0246-z. PMID: 15300460

Prognosis

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.
Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S
Neurol Sci 2004 Jul;25(3):130-7. doi: 10.1007/s10072-004-0246-z. PMID: 15300460

Clinical prediction guides

Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA gene.
Iwasa K, Shima K, Komai K, Nishida Y, Yokota T, Yamada M
J Neurol Sci 2014 Oct 15;345(1-2):228-30. Epub 2014 Jul 9 doi: 10.1016/j.jns.2014.07.001. PMID: 25066259
The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein.
Meier R, Tomizaki T, Schulze-Briese C, Baumann U, Stocker A
J Mol Biol 2003 Aug 15;331(3):725-34. doi: 10.1016/s0022-2836(03)00724-1. PMID: 12899840

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