The first indian-origin family with genetically proven cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Journal of Stroke and Cerebrovascular Diseases

Volumn 22, Issue 1, 2013, Pages 28-31

  Yadav, Sunaina ^a   Bentley, Paul ^a   Srivastava, Padma ^b   Prasad, Kameshwar ^b   Sharma, Pankaj ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

familial inheritance; gene polymorphism; Notch3; small vessel disease; South Asian; stroke

Indexed keywords

ADULT; ARTICLE; CADASIL; CASE REPORT; CLINICAL FEATURE; FAMILY HISTORY; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; INDIAN; MALE; NOTCH3 GENE; PEDIGREE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CADASIL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INDIA; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION, MISSENSE; NERVOUS SYSTEM; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE OF TESTS; RECEPTORS, NOTCH; WILLS; YOUNG ADULT;

EID: 84871279688     PISSN: 10523057     EISSN: 15328511     Source Type: Journal    
DOI: 10.1016/j.jstrokecerebrovasdis.2011.05.023     Document Type: Article

References (28)

1. E. Tournier-Lasserve, A. Joutel, and J. Melki Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12 Nat Genet 3 1993 256 259 (Pubitemid 23096563)
2. A. Joutel, A. Ducros, and S. Alamowitch A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region Genomics 38 1996 192 198 (Pubitemid 26424598)
3. A. Joutel, C. Corpechot, and A. Ducros Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia Nature 383 1996 707 710 (Pubitemid 26360644)
4. A. Joutel, F. Andreux, and S. Gaulis The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients J Clin Invest 105 2000 597 605 (Pubitemid 30146506)
5. A. Joutel, P. Favrole, and P. Labauge Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis Lancet 358 2001 2049 2051 (Pubitemid 34084832)
6. K.R. De Silva, R. Gamage, and J. Dunuwille Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): A patient from Sri Lanka J Clin Neurosci 16 2009 1492 1493
7. A. Panagariya, and B. Sharma Shubhakaran. CADASIL in a family from northwest India J Assoc Physicians India 52 2004 580 581 (Pubitemid 41279737)
8. J.K. Gurumukhani, M. Ursekar, and B.S. Singhal Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): A case report with review of literature Neurol India 52 2004 99 101
9. S.S. Razvi, R. Davidson, and I. Bone The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland J Neurol Neurosurg Psychiatry 76 2005 739 741 (Pubitemid 40569692)
10. D.W. Desmond, J.T. Moroney, and T. Lynch CADASIL in a North American family: Clinical, pathologic, and radiologic findings Neurology 51 1998 844 849 (Pubitemid 28449270)
11. CADASIL Foundation. CADASIL: Together we have hope. Available from: http://www.Cadasilfoundation.Org. Accessed December 20, 2010.
12. A. Joutel, D.D. Dodick, and J.E. Parisi De novo mutation in the Notch3 gene causing CADASIL Ann Neurol 47 2000 388 391 (Pubitemid 30141853)
13. S.S. Razvi, R. Davidson, and I. Bone Is inadequate family history a barrier to diagnosis in CADASIL? Acta Neurol Scand 112 2005 323 326 (Pubitemid 41530730)
14. S. Tikka, K. Mykkanen, and M.M. Ruchoux Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients Brain 132 2009 933 939
15. M. Dichgans, H. Ludwig, and J. Muller-Hocker Small in-frame deletions and missense mutations in CADASIL: 3d models predict misfolding of Notch3 EGF-like repeat domains Eur J Hum Genet 8 2000 280 285 (Pubitemid 30336181)
16. R. Mazzei, F.L. Conforti, and P.L. Lanza A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL Neurology 63 2004 561 564 (Pubitemid 39031395)
17. A. Joutel, H. Chabriat, and K. Vahedi Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL Neurology 54 2000 1874 1875 (Pubitemid 30428427)
18. A. Joutel, K. Vahedi, and C. Corpechot Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients Lancet 350 1997 1511 1515 (Pubitemid 28036555)
19. S.A. Oberstein, M.D. Ferrari, E. Bakker Dutch CADASIL Research Group Diagnostic Notch3 sequence analysis in CADASIL: Three new mutations in Dutch patients Neurology 52 1999 1913 1915 (Pubitemid 29260913)
20. H.S. Markus, R.J. Martin, and M.A. Simpson Diagnostic strategies in CADASIL Neurology 59 2002 1134 1138 (Pubitemid 35192381)
21. N. Peters, C. Opherk, and T. Bergmann Spectrum of mutations in biopsy-proven CADASIL: Implications for diagnostic strategies Arch Neurol 62 2005 1091 1094 (Pubitemid 41043729)
22. S. Tuominen, V. Juvonen, and K. Amberla Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation Stroke 32 2001 1767 1774 (Pubitemid 32772205)
23. M.K. Liem, S.A. Lesnik Oberstein, and M.J. Vollebregt Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: A family report J Neurol 255 2008 1978 1980
24. A. Cappelli, M. Ragno, and G. Cacchio High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Neurosci Lett 462 2009 176 178
25. T. Murakami, K. Iwatsuki, and T. Hayashi Two Japanese CADASIL families with a R141C mutation in the Notch3 gene Intern Med 40 2001 1144 1148 (Pubitemid 33133728)
26. K. Ishibashi, T. Murata, and Y. Miki Japanese CADASIL case with limited dementia who had the Notch3 R141C mutation No To Shinkei 57 2005 415 418 (inJapanese) (Pubitemid 40874404)
27. D. Reich, K. Thangaraj, and N. Patterson Reconstructing Indian population history Nature 461 2009 489 494
28. H. Chabriat, K. Vahedi, and M.T. Iba-Zizen Clinical spectrum of CADASIL: A study of 7 families Lancet 346 1995 934 939