title: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of the cerebral small blood vessels caused by mutations in the Notch3 gene. The exact prevalence of this disorder was unknown currently, and the number of reported CADASIL families is steadily increasing as the clinical picture and diagnostic examinations are becoming more widely known. The main clinical manifestations are recurrent stroke, migraine, psychiatric symptoms, and progressive cognitive impairment. The clinical course of CADASIL is highly variable, even within families. The involvement of the anterior temporal lobe and the external capsule on brain magnetic resonance imaging was found to have high sensitivity and specificity in differentiating CADASIL from the much more common sporadic cerebral small-vessel disease (SVD). The pathologic hallmark of the disease is the presence of granular osmiophilic material in the walls of affected vessels. CADASIL is a prototype single-gene disorder that has evolved as a unique model for studying the mechanisms underlying cerebral SVD. At present, the incidence and prevalence of CADASIL seem to be underestimated due to limitations in clinical, neuroradiological, and genetic diagnoses of this disorder.
authors.affiliation: Department of Neurology and Institute of Medical Science, Jeju National University School of Medicine, Jeju, Korea.
authors.forename: Jay Chol
authors.initials: JC
authors.lastname: Choi
references.citation: Acta Neurol Scand. 2005 Nov;112(5):323-6
references.pmid: 16218915
references.citation: J Neuropathol Exp Neurol. 1997 Sep;56(9):947-64
references.pmid: 9291937
references.citation: Radiology. 2003 Dec;229(3):683-90
references.pmid: 14593195
references.citation: Neurology. 1998 Jun;50(6):1715-21
references.pmid: 9633716
references.citation: Stroke. 2003 Jan;34(1):203-5
references.pmid: 12511775
references.citation: Stroke. 1994 Nov;25(11):2291-2
references.pmid: 7974561
references.citation: Brain. 2004 Sep;127(Pt 9):2031-8
references.pmid: 15229130
references.citation: Nat Genet. 1993 Mar;3(3):256-9
references.pmid: 8485581
references.citation: Stroke. 2004 Jul;35(7):1603-8
references.pmid: 15155961
references.citation: Neurology. 1998 May;50(5):1505
references.pmid: 9596023
references.citation: Neurology. 1998 Aug;51(2):452-7
references.pmid: 9710018
references.citation: Acta Neurol Scand. 1997 Jun;95(6):351-7
references.pmid: 9228269
references.citation: Lancet Neurol. 2008 Apr;7(4):310-8
references.pmid: 18296124
references.citation: Brain. 2004 Nov;127(Pt 11):2533-9
references.pmid: 15364702
references.citation: Eur J Neurol. 2006 Jun;13(6):628-31
references.pmid: 16796587
references.citation: Brain. 2006 Sep;129(Pt 9):2375-83
references.pmid: 16844717
references.citation: Neurology. 2002 Oct 22;59(8):1134-8
references.pmid: 12395806
references.citation: Lancet. 1997 Mar 15;349(9054):776-7
references.pmid: 9074584
references.citation: Neurology. 2005 Oct 25;65(8):1322-4
references.pmid: 16247072
references.citation: Stroke. 2002 Nov;33(11):2565-9
references.pmid: 12411643
references.citation: Neurology. 2006 May 23;66(10):1511-6
references.pmid: 16717210
references.citation: Stroke. 2006 Sep;37(9):2242-7
references.pmid: 16873707
references.citation: Stroke. 1999 Jun;30(6):1230-3
references.pmid: 10356105
references.citation: Neurology. 2001 Mar 13;56(5):628-34
references.pmid: 11245715
references.citation: Acta Neuropathol. 2006 Sep;112(3):333-9
references.pmid: 16871402
references.citation: Lancet. 1977 Jun 25;1(8026):1364-5
references.pmid: 69080
references.citation: J Neurol. 2009 Oct;256(10):1724-7
references.pmid: 19488673
references.citation: J Neurol. 2009 Feb;256(2):249-55
references.pmid: 19242647
references.citation: Stroke. 2005 Dec;36(12):2559-65
references.pmid: 16269644
references.citation: Nature. 1996 Oct 24;383(6602):707-10
references.pmid: 8878478
references.citation: Neurology. 2008 Sep 2;71(10):774-6
references.pmid: 18765654
references.citation: Curr Opin Neurol. 2005 Apr;18(2):179-88
references.pmid: 15791150
references.citation: Neurology. 2007 Jul 10;69(2):172-9
references.pmid: 17620550
references.citation: Hum Mol Genet. 2009 Aug 1;18(15):2761-7
references.pmid: 19417009
references.citation: Eur J Hum Genet. 2004 Oct;12(10):813-9
references.pmid: 15378071
references.citation: Neurology. 2004 Aug 10;63(3):561-4
references.pmid: 15304596
references.citation: Neurology. 2001 Dec 11;57(11):2144-5
references.pmid: 11739850
references.citation: Brain. 2007 Feb;130(Pt 2):357-67
references.pmid: 17235124
references.citation: Acta Neuropathol. 1995;89(6):500-12
references.pmid: 7676806
references.citation: Lancet. 1995 Oct 7;346(8980):934-9
references.pmid: 7564728
references.citation: Stroke. 1993 Jan;24(1):122-5
references.pmid: 8418535
references.citation: J Neurol Sci. 2003 Aug 15;212(1-2):79-84
references.pmid: 12810003
references.citation: Neurology. 2006 May 23;66(10):1517-22
references.pmid: 16717211
references.citation: Am J Hum Genet. 2004 Feb;74(2):338-47
references.pmid: 14714274
references.citation: Stroke. 2006 Nov;37(11):2690-5
references.pmid: 17008611
references.citation: Neurology. 2009 Mar 10;72(10):905-10
references.pmid: 19273824
references.citation: J Clin Invest. 2000 Mar;105(5):597-605
references.pmid: 10712431
references.citation: J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):175-80
references.pmid: 16421118
references.citation: Curr Opin Hematol. 2004 Jul;11(4):278-83
references.pmid: 15314528
references.citation: Acta Neurol Scand. 2008 Nov;118(5):291-5
references.pmid: 18384453
references.citation: J Neurol Neurosurg Psychiatry. 2005 May;76(5):736-8
references.pmid: 15834039
references.citation: J Neurol Neurosurg Psychiatry. 2005 May;76(5):739-41
references.pmid: 15834040
references.citation: Lancet. 1997 Nov 22;350(9090):1511-5
references.pmid: 9388399
references.citation: Science. 1999 Apr 30;284(5415):770-6
references.pmid: 10221902
references.citation: Brain Pathol. 2004 Oct;14(4):358-64
references.pmid: 15605982
references.citation: Stroke. 1994 Mar;25(3):704-7
references.pmid: 7907448
references.citation: Brain. 2009 Apr;132(Pt 4):933-9
references.pmid: 19174371
references.citation: Stroke. 2004 May;35(5):1063-7
references.pmid: 15017012
references.citation: Acta Neuropathol. 1977 Aug 31;39(3):247-54
references.pmid: 906807
references.citation: Stroke. 2001 Aug;32(8):1767-74
references.pmid: 11486103
references.citation: Mutat Res. 2006 Jan 29;593(1-2):116-20
references.pmid: 16256149
references.citation: Stroke. 2007 Mar;38(3):923-8
references.pmid: 17272761
references.citation: Hum Mutat. 2008 Mar;29(3):452
references.pmid: 18273901
references.citation: Lancet. 2001 Dec 15;358(9298):2049-51
references.pmid: 11755616
references.citation: Ann Neurol. 2000 Mar;47(3):388-91
references.pmid: 10716263
references.citation: Ann Neurol. 1998 Nov;44(5):731-9
references.pmid: 9818928
references.citation: Neurology. 2006 Dec 12;67(11):2042-4
references.pmid: 17135568
references.citation: Brain. 2009 Jun;132(Pt 6):1601-12
references.pmid: 19293235
references.citation: Stroke. 2008 Jul;39(7):2155-7
references.pmid: 18451353
references.citation: Stroke. 2000 Aug;31(8):1904-12
references.pmid: 10926955
references.citation: Neurology. 2006 May 23;66(10):1523-6
references.pmid: 16717212