Characteristics of CADASIL in Korea: A novel cysteine-sparing Notch3 mutation

Neurology

Volumn 66, Issue 10, 2006, Pages 1511-1516

  Kim, Y ^a   Choi, E J ^b   Choi, C G ^b   Kim, G ^c   Choi, J H ^b,c   Yoo, H W ^b,c   Kim, J S ^b,c  

^a Wonkwang University   (South Korea)

^b University of Ulsan College of Medicine   (South Korea)

^c Asan Medical Center   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; NOTCH RECEPTOR; NOTCH3 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN INFARCTION; BRAIN ISCHEMIA; CADASIL; CEREBROVASCULAR DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFUSION WEIGHTED IMAGING; DISEASE SEVERITY; DNA SEQUENCE; FEMALE; GENE MUTATION; HUMAN; KOREA; LEUKOENCEPHALOPATHY; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK FACTOR; AMINO ACID SUBSTITUTION; BRAIN HEMORRHAGE; ETHNOLOGY; GENETICS; GENOTYPE; INCIDENCE; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; POINT MUTATION; TEMPORAL LOBE; VASCULARIZATION;

ADULT; AGED; AMINO ACID SUBSTITUTION; CADASIL; CEREBRAL HEMORRHAGE; CEREBRAL INFARCTION; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INCIDENCE; KOREA; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POINT MUTATION; RECEPTORS, NOTCH; TEMPORAL LOBE;

EID: 33745360681     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000216259.99811.50     Document Type: Article

References (19)

1. Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996;383:707-710.
2. Chabriat H, Vahedi K, Iba-Zizen MT, et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet 1995;346:934-939.
3. Dichgans M, Mayer M, Uttner I, et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 1998;44:731-739.
4. Mykkänen K, Savontaus ML, Juvonen V, et al. Detection of the founder effect in Finnish CADASIL families. Eur J Hum Genet 2004;12:813-819.
5. Oberstein SA, van den Boom R, van Buchem MA, et al. Dutch CADASIL research group. Cerebral microbleeds in CADASIL. Neurology 2001;57:1066-1170.
6. Dichgans M, Holtmannspotter M, Herzog J, Peters N, Bergmann M, Yousry TA. Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study. Stroke 2002;33:67-71.
7. th decades. Radiology 2003;229:683-690.
8. O'Sullivan M, Rich PM, Barrick TR, Clark CA, Markus HS. Frequency of subclinical lacunar infarcts in ischemic leukoaraiosis and cerebral autosomal dominant arteriopathy with subclinical infarcts and leukoencephalopathy. Am J Neuroradiol 2003;24:1348-1354.
9. Moon SY, Ki CS, Kim JW, Suh YL, Kwon JC, Na DL. Silent infarcts demonstrated by diffusion-weighted MRI in CADASIL. Eur Neurol 2003;49:178-180.
10. Kotorii S, Takahashi K, Kamimura K, et al. Mutation of the notch3 gene in non-Caucasian patients with suspected CADASIL syndrome. Dement Geriatr Cogn Disord 2001;12:185-193.
11. Santa Y, Uyama E, Chui DH, et al. Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis. J Neurol Sci 2003;21:79-84.
12. Wilder-Smith E, Shen Y, Ng YK, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Chinese family: clinical, radiological and skin biopsy features. J Clin Neurosci 2004;11:304-307.
13. Dichgans M, Filippi M, Brüning R, et al. Quantitative MRI in CADASIL. Correlation with disability and cognitive performance. Neurology 1999;52:1361-1367.
14. Peter N, Herzog J, Opherk C, Dichgans M. A two-year clinical follow-up study in 80 CADASIL subjects. Progression patterns and implications for clinical trials. Stroke 2004;35:1603-1608.
15. Opherk C, Peters N, Herzog J, Luedtke R, Dichgans M. Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain 2004;127:2533-2539.
16. Christophe OD, Lenting PJ, Kolkman JA, Brownlee GG, Mertens K. Blood coagulation factor IX residues Glu78 and Arg94 provide a link between both epidermal growth factor-like domains that is crucial in the interaction with factor VIII light chain. J Biol Chem 1998;273:222-227.
17. Oda T, Elkahloun AG, Pike BL, et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997;16:235-242.
18. Mazzei R, Conforti FL, Lanza PL, et al. A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. Neurology 2004;63:561-564.
19. O'Sullivan M, Jarosz JM, Martin RJ, Deasy N, Powell JF, Markus HS. MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology 2001;56:628-634.