Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease.
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.
Choi
Jay Chol
JC
Department of Neurology and Institute of Medical Science, Jeju National University School of Medicine, Jeju, Korea.
Acta Neurol Scand. 2005 Nov;112(5):323-6
16218915
J Neuropathol Exp Neurol. 1997 Sep;56(9):947-64
9291937
Radiology. 2003 Dec;229(3):683-90
14593195
Neurology. 1998 Jun;50(6):1715-21
9633716
Stroke. 2003 Jan;34(1):203-5
12511775
Stroke. 1994 Nov;25(11):2291-2
7974561
Brain. 2004 Sep;127(Pt 9):2031-8
15229130
Nat Genet. 1993 Mar;3(3):256-9
8485581
Stroke. 2004 Jul;35(7):1603-8
15155961
Neurology. 1998 May;50(5):1505
9596023
Neurology. 1998 Aug;51(2):452-7
9710018
Acta Neurol Scand. 1997 Jun;95(6):351-7
9228269
Lancet Neurol. 2008 Apr;7(4):310-8
18296124
Brain. 2004 Nov;127(Pt 11):2533-9
15364702
Eur J Neurol. 2006 Jun;13(6):628-31
16796587
Brain. 2006 Sep;129(Pt 9):2375-83
16844717
Neurology. 2002 Oct 22;59(8):1134-8
12395806
Lancet. 1997 Mar 15;349(9054):776-7
9074584
Neurology. 2005 Oct 25;65(8):1322-4
16247072
Stroke. 2002 Nov;33(11):2565-9
12411643
Neurology. 2006 May 23;66(10):1511-6
16717210
Stroke. 2006 Sep;37(9):2242-7
16873707
Stroke. 1999 Jun;30(6):1230-3
10356105
Neurology. 2001 Mar 13;56(5):628-34
11245715
Acta Neuropathol. 2006 Sep;112(3):333-9
16871402
Lancet. 1977 Jun 25;1(8026):1364-5
69080
J Neurol. 2009 Oct;256(10):1724-7
19488673
J Neurol. 2009 Feb;256(2):249-55
19242647
Stroke. 2005 Dec;36(12):2559-65
16269644
Nature. 1996 Oct 24;383(6602):707-10
8878478
Neurology. 2008 Sep 2;71(10):774-6
18765654
Curr Opin Neurol. 2005 Apr;18(2):179-88
15791150
Neurology. 2007 Jul 10;69(2):172-9
17620550
Hum Mol Genet. 2009 Aug 1;18(15):2761-7
19417009
Eur J Hum Genet. 2004 Oct;12(10):813-9
15378071
Neurology. 2004 Aug 10;63(3):561-4
15304596
Neurology. 2001 Dec 11;57(11):2144-5
11739850
Brain. 2007 Feb;130(Pt 2):357-67
17235124
Acta Neuropathol. 1995;89(6):500-12
7676806
Lancet. 1995 Oct 7;346(8980):934-9
7564728
Stroke. 1993 Jan;24(1):122-5
8418535
J Neurol Sci. 2003 Aug 15;212(1-2):79-84
12810003
Neurology. 2006 May 23;66(10):1517-22
16717211
Am J Hum Genet. 2004 Feb;74(2):338-47
14714274
Stroke. 2006 Nov;37(11):2690-5
17008611
Neurology. 2009 Mar 10;72(10):905-10
19273824
J Clin Invest. 2000 Mar;105(5):597-605
10712431
J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):175-80
16421118
Curr Opin Hematol. 2004 Jul;11(4):278-83
15314528
Acta Neurol Scand. 2008 Nov;118(5):291-5
18384453
J Neurol Neurosurg Psychiatry. 2005 May;76(5):736-8
15834039
J Neurol Neurosurg Psychiatry. 2005 May;76(5):739-41
15834040
Lancet. 1997 Nov 22;350(9090):1511-5
9388399
Science. 1999 Apr 30;284(5415):770-6
10221902
Brain Pathol. 2004 Oct;14(4):358-64
15605982
Stroke. 1994 Mar;25(3):704-7
7907448
Brain. 2009 Apr;132(Pt 4):933-9
19174371
Stroke. 2004 May;35(5):1063-7
15017012
Acta Neuropathol. 1977 Aug 31;39(3):247-54
906807
Stroke. 2001 Aug;32(8):1767-74
11486103
Mutat Res. 2006 Jan 29;593(1-2):116-20
16256149
Stroke. 2007 Mar;38(3):923-8
17272761
Hum Mutat. 2008 Mar;29(3):452
18273901
Lancet. 2001 Dec 15;358(9298):2049-51
11755616
Ann Neurol. 2000 Mar;47(3):388-91
10716263
Ann Neurol. 1998 Nov;44(5):731-9
9818928
Neurology. 2006 Dec 12;67(11):2042-4
17135568
Brain. 2009 Jun;132(Pt 6):1601-12
19293235
Stroke. 2008 Jul;39(7):2155-7
18451353
Stroke. 2000 Aug;31(8):1904-12
10926955
Neurology. 2006 May 23;66(10):1523-6
16717212