A Man with Migraine, Aphasia, and Hemiparesis and Similarly Affected Family Members Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

被引：17

作者：

Brass, Steven D. ^{[1
,6
]}

Smith, Eric E. ^{[4
,5
]}

Arboleda-Velasquez, Joseph F. ^{[7
]}

Copen, William A. ^{[2
,8
]}

Frosch, Matthew P. ^{[3
,9
]}

机构：

[1] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA

[2] Massachusetts Gen Hosp, Dept Radiol, Boston, MA 02114 USA

[3] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA

[4] Foothills Prov Gen Hosp, Dept Neurol, Calgary, AB T2N 2T9, Canada

[5] Univ Calgary, Dept Clin Neurosci, Calgary, AB, Canada

[6] Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA

[7] Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA USA

[8] Harvard Univ, Sch Med, Dept Radiol, Boston, MA 02115 USA

[9] Harvard Univ, Sch Med, Dept Pathol, Boston, MA 02115 USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2009年 / 360卷 / 16期

关键词：

SMALL-VESSEL DISEASE; NOTCH3; MUTATIONS; MULTIPLE-SCLEROSIS; DIFFERENTIAL-DIAGNOSIS; HEREDITARY; SPECTRUM; BINDING; MUSCLE; ONSET;

D O I：

10.1056/NEJMcpc0810839

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1656 / 1665

页数：10

共 40 条

[1] CADASIL mutations impair Notch3 glycosylation by Fringe [J].

Arboleda-Velasquez, JF ;

Rampal, R ;

Fung, E ;

Darland, DC ;

Liu, M ;

Martinez, MC ;

Donahue, CP ;

Navarro-Gonzalez, MF ;

Libby, P ;

D'Amore, PA ;

Aikawa, M ;

Haltiwanger, RS ;

Kosik, KS .

HUMAN MOLECULAR GENETICS, 2005, 14 (12) :1631-1639

[2] C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke [J].

Arboleda-Velasquez, JF ;

Lopera, F ;

Lopez, E ;

Frosch, MP ;

Sepulveda-Falla, D ;

Gutierrez, JE ;

Vargas, S ;

Medina, M ;

de Arrieta, CM ;

Lebo, RV ;

Slaugenhaupt, SA ;

Betensky, RA ;

Villegas, A ;

Arcos-Burgos, M ;

Rivera, D ;

Restrepo, JC ;

Kosik, KS .

NEUROLOGY, 2002, 59 (02) :277-279

[3] Linking Notch signaling to ischemic stroke [J].

Arboleda-Velasquez, Joseph F. ;

Zhou, Zhipeng ;

Shin, Hwa Kyoung ;

Louvi, Angeliki ;

Kim, Hyung-Hwan ;

Savitz, Sean I. ;

Liao, James K. ;

Salomone, Salvatore ;

Ayata, Cenk ;

Moskowitz, Michael A. ;

Artavanis-Tsakonas, Spyros .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (12) :4856-4861

[4] Notch signaling: Cell fate control and signal integration in development [J].

Artavanis-Tsakonas, S ;

Rand, MD ;

Lake, RJ .

SCIENCE, 1999, 284 (5415) :770-776

[5] Initial evaluations for multiple sclerosis in a university multiple sclerosis center - Outcomes and role of magnetic resonance imaging in referral [J].

Carmosino, MJ ;

Brousseau, KM ;

Arciniegas, DB ;

Corboy, JR .

ARCHIVES OF NEUROLOGY, 2005, 62 (04) :585-590

[6] CLINICAL SPECTRUM OF CADASIL - A STUDY OF 7 FAMILIES [J].

CHABRIAT, H ;

VAHEDI, K ;

IBAZIZEN, MT ;

JOUTEL, A ;

NIBBIO, A ;

NAGY, TG ;

KREBS, MO ;

JULIEN, J ;

DUBOIS, B ;

DUCROCQ, X ;

LEVASSEUR, M ;

HOMEYER, P ;

MAS, JL ;

LYONCAEN, O ;

LASSERVE, ET ;

BOUSSER, MG .

LANCET, 1995, 346 (8980) :934-939

[7] MRI and the diagnosis of multiple sclerosis: expanding the concept of "no better explanation" [J].

Charil, Arnaud ;

Yousry, Tarek A. ;

Rovaris, Marco ;

Barkhof, Frederik ;

De Stefano, Nicola ;

Fazekas, Franz ;

Miller, David H. ;

Montalban, Xavier ;

Simon, Jack H. ;

Polman, Chris ;

Filippi, Massimo .

LANCET NEUROLOGY, 2006, 5 (10) :841-852

[8]

Cohen JA, 2000, MULTIPLE SCLEROSIS: DIAGNOSIS, MEDICAL MANAGEMENT, AND REHABILITATION, P127

[9] Small in-frame deletions and missense mutations in CADASIL:: 3D models predict misfolding of Notch3 EGF-like repeat domains [J].

Dichgans, M ;

Ludwig, H ;

Müller-Höcker, J ;

Messerschmidt, A ;

Gasser, T .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (04) :280-285

[10] The phenotypic spectrum of CADASIL:: Clinical findings in 102 cases [J].

Dichgans, M ;

Mayer, M ;

Uttner, I ;

Brüning, R ;

Müller-Höcker, J ;

Rungger, G ;

Ebke, M ;

Klockgether, T ;

Gasser, T .

ANNALS OF NEUROLOGY, 1998, 44 (05) :731-739

← 1 2 3 4 →