Clinical features of CADASIL

Annals of the New York Academy of Sciences

Volumn 977, Issue , 2002, Pages 266-272

  Abe, Koji ^a   Murakami, Tetsuro ^a   Matsubara, Etsuro ^a   Manabe, Yasuhiro ^a   Nagano, Isao ^a   Shoji, Mikio ^a  

^a OKAYAMA UNIVERSITY   (Japan)

Author keywords

CADASIL; Disease; Mutation

Indexed keywords

BINSWANGER ENCEPHALOPATHY; BRAIN ISCHEMIA; BRAIN REGION; CADASIL; CAUCASIAN; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; GENE; GENE MUTATION; HUMAN; JAPAN; LEUKOARAIOSIS; MIGRAINE; MOTOR DYSFUNCTION; MULTIINFARCT DEMENTIA; NOTCH3 GENE; ONSET AGE; PSEUDOBULBAR PALSY; STROKE; TRANSIENT ISCHEMIC ATTACK;

EID: 0036451673     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2002.tb04825.x     Document Type: Conference Paper

References (14)

1. Baudrimont, M., F. Dubas, A. Joutel et al. 1993. Autosomal dominant leukoencephalopathy and subcortical ischemic stroke: A clinicopathological study. Stroke 24(1): 122-125.
2. Dichgans, M., M. Mayer, I. Uttner et al. 1998. The phenotypic spectrum of CADASIL: Clinical findings in 102 cases. Ann. Neurol. 44(5): 731-739.
3. Ruchoux, M.M. & C.A. Maurage. 1997. CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J. Neuropathol. Exp. Neurol. 56(9): 947-964.
4. Kalimo, H., M. Viitanen, K. Amberla et al. 1999. CADASIL: Hereditary disease of arteries causing brain infarcts and dementia. Neuropathol. Appl. Neurobiol. 25(4): 257-265.
5. Joutel, A., C. Corpechot, A. Ducros et al. 1996. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383: 707-710.
6. Joutel, A., K. Vehedi, C. Corpechot et al. 1997. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 350: 1511-1515.
7. Matsuno, K., D. Eastman, T. Mitsiades et al. 1998. Human deltex is a conserved regulator of Notch signaling. Nat. Genet. 19(1): 74-78.
8. Artavanis-Tsakonas, S., K. Matsuno & M.E. Firtini. 1995. Notch signaling. Science 268: 225-232.
9. Murakami, T., K. Iwatsuki, T. Hayashi et al. 2001. Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. Intern. Med. 40(11): 1144-1148.
10. Joutel, A., F. Andreux, S. Gaulis et al. 2000. The ectodomain of the Notch3 receptor accumulates within the cerebro-vasculature of CADASIL patients. J. Clin. Invest. 105(5): 597-605.
11. Uyama, E., M. Tokunaga, A. Suenaga et al. 2000. Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL. Intern. Med. 39(9): 732-737.
12. Kotorii, S., K. Takahashi, K. Kamimura et al. 2001. Mutations of the Notch3 gene in non-Caucasian patients with suspected CADASIL syndrome. Dement. Geriatr. Cognit. Disord. I2(3): 185-193.
13. Adachi, Y. & K. Nakashima. 2000. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) characteristics in Japan: Variety of clinical features. Intern. Med. 39(9): 681-682.
14. Coulthard, A., S.C. Blank, K. Bushby et al. 2000. Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL. Br. J. Radiol. 73(867): 256-265.