Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase;Infarctus cérébral et iridodonésis révélant une homocystinurie par mutation hétérozygote composite de la cystathionine bêta-synthase

Revue Neurologique

Volumn 164, Issue 8-9, 2008, Pages 728-732

  Lefaucheur, R ^a   Triquenot Bagan, A ^a   Quillard, M ^a   Genevois, O ^a   Hannequin, D ^a  

^a ROUEN UNIVERSITY HOSPITAL   (France)

Author keywords

Cystathionine beta synthase; Ectopia Lentis; Homocystinuria; Stroke

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; DIHYDROFOLATE REDUCTASE; HOMOCYSTEINE;

ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; BRAIN ISCHEMIA; CASE REPORT; CEREBROVASCULAR ACCIDENT; CLINICAL ASSESSMENT; CLINICAL FEATURE; DISEASE ASSOCIATION; ECTOPIA LENTIS; FEMALE; GENE MUTATION; HOMOCYSTINURIA; HUMAN; IRIS; MIDDLE CEREBRAL ARTERY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; STROKE; BRAIN; GENETICS; HETEROZYGOTE; IRIS DISEASE; MUTATION; PATHOLOGY; PHYSIOLOGY;

ADULT; BRAIN; BRAIN ISCHEMIA; FEMALE; HETEROZYGOTE; HOMOCYSTINURIA; HUMANS; IRIS; IRIS DISEASES; MAGNETIC RESONANCE IMAGING; MUTATION; STROKE;

EID: 58149131400     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2007.12.004     Document Type: Article

References (21)

1. Burke J.P., O'Keefe M., Bowell R., and Naughten E.R. Ocular complications in homocystinuria - early and late treated. Br J Ophthalmol 73 (1989) 427-431
2. Chen X., Wang L., Fazlieva R., and Kriger W.D. Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response. Hum Mutat 27 (2006) 474-482
3. Domagala T.B., Undas A., Libura M., and Szczeklik A. Pathogenesis of vascular disease in hyperhomocysteinaemia. J Cardiovasc Risk 5 (1998) 239-247
4. Fuchs J., and Rosenberg T. Congenital ectopia lentis. A Danish national survey. Acta Ophthalmol Scand 76 (1998) 20-26
5. Gaustadnes M., Wilcken B., Oliveriusova J., et al. The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutat 20 (2002) 117-126
6. Gudnason V., Stansbie D., Scott J., Bowron A., Nicaud V., and Humphries S. C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): its frequency and impact on plasma homocysteine concentration in different European populations. EARS group. Atherosclerosis 136 (1998) 347-354
7. Jacques P.F., Bostom A.G., Williams R.R., et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93 (1996) 7-9
8. Kelly P.J., Furie K.L., Kistler J.P., et al. Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. Neurology 62 (2003) 275-279
9. Kluijtmans L.A., Boers G.H., Kraus J.P., et al. The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet 65 (1999) 59-67
10. Kluijtmans L.A., Boers G.H., Stevens E.M., et al. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J Clin Invest 98 (1996) 285-289
11. Kraus J.P., Janosik M., Kozich V., et al. Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat 13 (1999) 362-375
12. Kruger W.D., Wang L., Jhee K.H., Singh R.H., and Elsas L.J. Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. Hum Mutat 22 (2003) 434-441
13. Lawrence de Koning A.B., Werstuck G.H., Zhou J., and Austin R.C. Hyperhomocysteinemia and its role in the development of atherosclerosis. Clin Biochem 36 (2003) 431-441
14. Medina M., Urdiales J.L., and Amores-Sanchez M.I. Roles of homocysteine in cell metabolism: old and new functions. Eur J Biochem 268 (2001) 3871-4382
15. Moat S.J., Bao L., Fowler B., Bonham J.R., Walter J.H., and Kraus J.P. The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. Hum Mutat 23 (2004) 206
16. Mudd S.H., Skovby F., Levy H.L., et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J. Hum Genet 37 (1985) 1-31
17. Munke M., Kraus J.P., Ohura T., and Francke U. The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am J. Hum Genet 42 (1988) 550-559
18. Pietrzik K., and Bronstrup A. Causes and consequences of hyperhomocyst(e)inemia. Int J Vitam Nutr Res 67 (1997) 389-395
19. Sibani S., Leclerc S., Weisberg I.S., et al. Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation. Hum Mutat 21 (2003) 509-520
20. Streeten B.W. The nature of the ocular zonule. Trans Am Ophthalmol Soc 80 (1982) 823-854
21. Watkins D., Ru M., Hwang H.Y., et al. Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. Am J Hum Genet 71 (2002) 143-153