Ataxia with vitamin e deficiency in southeast Norway, case report

Acta Neurologica Scandinavica

Volumn 120, Issue SUPPL. 189, 2009, Pages 42-45

  Koht, J ^a,b   Bjornar K A ^c   Jorum E ^a,d   Tallaksen, C M E ^a,b  

^a UNIVERSITY OF OSLO   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c Sykehuset Buskerud HF   (Norway)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

Ataxia; Ataxia with vitamin E deficiency; Friedreich's ataxia; Recessive ataxia; Vitamin E

Indexed keywords

ALPHA TOCOPHEROL; CARRIER PROTEIN; FRATAXIN;

ADULT; ALPHA TOCOPHEROL DEFICIENCY; ARTICLE; ATAXIA; CASE REPORT; CHROMOSOME 8; CLINICAL EVALUATION; DRUG DOSE INCREASE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; FRIEDREICH ATAXIA; GENETIC ANALYSIS; HEAD; HETEROZYGOSITY; HUMAN; LABORATORY TEST; LIMB; MUTATION; NEUROLOGIC EXAMINATION; NORWAY; OPHTHALMOSCOPY; PHENOTYPE; SENSORY NEUROPATHY; SERUM; VIBRATION SENSE;

EID: 67651250376     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2009.01214.x     Document Type: Article

References (24)

1. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007 6 : 245 57.
2. Benomar A, Yahyaoui M, Meggouh F et al. Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. J Neurol Sci 2002 198 : 25 9.
3. Durr A, Cossee M, Agid Y et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996 335 : 1169 75.
4. Cavalier L, Ouahchi K, Kayden HJ et al. Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet 1998 62 : 301 10.
5. Angelini L, Erba A, Mariotti C, Gellera C, Ciano C, Nardocci N. Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient. Mov Disord 2002 17 : 612 14.
6. Mariotti C, Gellera C, Rimoldi M et al. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci 2004 25 : 130 7.
7. Ouahchi K, Arita M, Kayden H et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet 1995 9 : 141 5.
8. Roubertie A, Biolsi B, Rivier F, Humbertclaude V, Cheminal R, Echenne B. Ataxia with vitamin E deficiency and severe dystonia: report of a case. Brain Dev 2003 25 : 442 5.
9. Gabsi S, Gouder-Khouja N, Belal S, Fki M, Kefi M, Turki IEA. Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol 2001 8 : 477 81.
10. Schols L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C. Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Brain 1997 120 : 2131 40.
11. Jayaram S, Soman A, Tarvade S, Londhe V. Cerebellar ataxia due to isolated vitamin E deficiency. Indian J Med Sci 2005 59 : 20 3.
12. Kara B, Uzumcu A, Uyguner O et al. Ataxia with vitamin E deficiency associated with deafness. Turk J Pediatr 2008 50 : 471 5.
13. Ponten SC, Kwee ML, Wolters EC, Zijmans JCM. First case of ataxia with isolated vitamin E deficiency in the Netherlands. Parkinsonism Relat Disord 2007 13 : 315 16.
14. Genetic Disease Classification System. OMIM 606829, 2009.
15. Federico A. Ataxia with isolated vitamin E deficiency: a treatable neurologic disorder resembling Friedreich's ataxia. Neurol Sci 2004 25 : 119 21.
16. Genetic Disease Classification System. OMIM 600415, 2009.
17. Traber MG. Impaired ability of patients with familial isolated vitamin E deficiency to incorporate α tocopherol into lipoproteins secreted by the liver. J Clin Invest 1990 85 : 397 407.
18. Clarke MW, Burnett JB. Vitamin E in human and disease. Crit Rev Clin Lab Sci 2008 45 : 417 50.
19. Dietrichs E. Clinical manifestation of focal cerebellar disease as related to the organization of neural pathways. Acta Neurol Scand 2008 115 (Suppl. 187 6 11.
20. Marzouki N, Benomar A, Yahyaoui M et al. Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. Eur J Med Genet 2005 48 : 21 8.
21. Koht J, Tallaksen CM. Cerebellar ataxia in the eastern and southern parts of Norway. Acta Neurol Scand 2007 115 (Suppl. 187 76 9.
22. Schmitz-Hubsch T, Tezenas Du MS, Baliko L et al. Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients. Mov Disord 2006 21 : 699 704.
23. Warncke T, Stubhaug A, Jørum E. Ketamine, an NMDA receptor antagonist, suppresses spatial and temporal properties of burn-induced secondary hyperalgesia in man: a double-blind, cross-over comparison with morphine and placebo. Pain 1997 72 : 99 106.
24. Amiel J, Maziere JC, Beucler I et al. Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up. J Inherit Metab Dis 1995 18 : 333 40.