Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome.

Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome. Research Abstract Details 

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Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome. Abstract Text:

S Kotorii,K Takahashi,K Kamimura,T Nishio,K Arima,H Yamada,E Uyama,M Uchino,A Suenaga,M Matsumoto,G Kuchel,G A Rouleau,T Tabira,

The Notch3 gene has been recently identified as a causative gene for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). To investigate the genetic contribution of Notch mutations in familial cases with vascular leukoencephalopathy, we screened 13 patients from 11 unrelated families, which were selected on the basis of magnetic resonance imaging findings and positive family history. We identified three different missense mutations in 5 patients from 4 families. Two (Arg90Cys and Arg133Cys) are the same as previously reported in Caucasian patients, the other (Cys174Phe) is a novel mutation causing a loss of a cysteine in epidermal-growth-factor-like repeats of Notch3. These data indicate that the CADASIL Notch3 mutations were found in approximately 35% of familial cases with leukoencephalopathy, suggesting genetic heterogeneity of the disease.

Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome. Publishing Authors By Initials

S Kotorii,K Takahashi,K Kamimura,T Nishio,K Arima,H Yamada,E Uyama,M Uchino,A Suenaga,M Matsumoto,G Kuchel,GA Rouleau,T Tabira,

For similar inorganic chemicals: silicon compounds: siloxanes research abstracts see: inorganic chemicals: silicon compounds: siloxanes research

PUBMED ID PMID:

MEDLINE DATE: 2001 May-Jun

Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Dementia and geriatric cognitive disorders

VOLUME: 12

Page Numbers: 185-93

Journal Abbreviation: Dement Geriatr Cogn Disord

ISSN: 1420-8008

DAY: 24

MONTH: 03

YEAR: 2008

Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome. Information

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LANGUAGE: eng

NlmUniqueID: 9705200

Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome. Keywords Mesh Terms:

KEYWORDS: Siloxanes

MESH TERMS: genetics

Chemical & Substance for Abstract: Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome. Information

Substance Name: polymethylhydrosiloxane

Registry Number: 0

Grant and Affiliation Information for Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome.

AFFILIATION: Department of Demyelinating Disease and Aging, National Institute of Neuroscience, Tokyo, Japan.

Country: Switzerland

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MEDLINETA: Dement Geriatr Cogn Disord

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