Open Access
Cadasil
Tang Xiao-Mei,Chen Biao +1 more
- Vol. 13, Iss: 06, pp 441-445
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TLDR
Notch3 mutation is the molecular genetics basis of CADASIL and the detection of gene mutation and skin or muscle biopsy are the main tools in the diagnosis.Abstract:
As one of the causes of stroke, dementia and migraine, cerebral autosomal dominant with subcortical infarcts and leukoencephalopathy（CADASIL） has been paid increasing attention. Notch3 mutation is the molecular genetics basis of CADASIL. The detection of gene mutation and skin or muscle biopsy are the main tools in the diagnosis of CADASIL.
Key words:
CADASIL ; Notch3read more
Citations
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References
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Journal ArticleDOI
Notch Signaling: Cell Fate Control and Signal Integration in Development
TL;DR: Notch signaling defines an evolutionarily ancient cell interaction mechanism, which plays a fundamental role in metazoan development, providing a general developmental tool to influence organ formation and morphogenesis.
Journal ArticleDOI
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
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TL;DR: A minimal cosegregating region containing the AD3 gene is defined, and at least 19 different transcripts encoded within this region corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein.
Journal ArticleDOI
Diffusion tensor imaging: Concepts and applications
D. Le Bihan,J.-F. Mangin,Cyril Poupon,Chris A. Clark,Sabina Pappatà,Nicolas Molko,Hugues Chabriat +6 more
TL;DR: The concepts behind diffusion tensor imaging are reviewed and potential applications, including fiber tracking in the brain, which, in combination with functional MRI, might open a window on the important issue of connectivity.
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What is cognitive reserve? Theory and research application of the reserve concept.
TL;DR: This paper attempts to develop a coherent theoretical account of reserve, a distinction is suggested between reserve, the ability to optimize or maximize normal performance, and compensation, an attempt to maximize performance in the face of brain damage by using brain structures or networks not engaged when the brain is not damaged.
Journal ArticleDOI
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
Roel A. Ophoff,Gisela M. Terwindt,Monique N. Vergouwe,Ronald van Eijk,Peter J. Oefner,Susan M.G. Hoffman,Jane Lamerdin,Harvey W. Mohrenweiser,Dennis E. Bulman,Maurizio Ferrari,Joost Haan,Dick Lindhout,Gert-Jan B. van Ommen,Marten H. Hofker,Michel D. Ferrari,Rune R. Frants +15 more
TL;DR: A brain-specific P/Q-type Ca2+ channel alpha1-subunit gene, CACNL1A4, covering 300 kb with 47 exons is characterized, revealing polymorphic variations, including a (CA)n-repeat (D19S1150), a (CAG) n-repeat in the 3'-UTR, and different types of deleterious mutations in FHM and EA-2.