Cadasil
Mostrando 13-21 de 21 artigos, teses e dissertações.
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13. O que é importante na demência da substância branca?
Resumo Os trabalhos na área de demência têm enfocado primordialmente os distúrbios do córtex cerebral e da substância cinzenta subcortical, o que originou os conceitos de demência cortical e subcortical, respectivamente. A demência relacionada sobretudo com a substância branca tem recebido menor atenção. Apresentamos cinco casos ilustrativos de su
Dement. neuropsychol.. Publicado em: 2007-06
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14. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
Mutations in Notch3 cause CADASIL (cerebral autosomal dominant adult onset arteriopathy), which leads to stroke and dementia in humans. CADASIL arteriopathy is characterized by major alterations of vascular smooth muscle cells and the presence of specific granular osmiophilic deposits. Patients carry highly stereotyped mutations that lead to an odd number of
American Society for Clinical Investigation.
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15. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a clinicopathological and genetic study of a Swiss family.
This paper reports a Swiss family affected by a cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) linked to chromosome 19q12. In three generations several members of this family had recurrent stroke-like episodes and, some developed subcortical dementia, migraine-like headaches, and depression. The clinicall
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16. New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature.
A survey was carried out on a large family presenting the symptoms of familial arteriopathy (CADASIL) recently mapped to chromosome 19. This is characterised clinically by recurrent subcortical infarcts developing into pseudobulbar palsy and subcortical dementia, and radiologically by early MRI abnormalities. To characterise this familial condition, 43 membe
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17. A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling
Notch receptors are single transmembrane receptors that contain a large number of epidermal growth factor-like repeats (EGF repeats) in their extracellular domains. Mutations in the EGF repeats of the human Notch 3 receptor lead to the vascular dementia disease Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASI
National Academy of Sciences.
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18. CADASIL: Notch signaling defect or protein accumulation problem?
American Society for Clinical Investigation.
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19. Non‐convulsive status epilepticus causing focal neurological deficits in CADASIL
BMJ Group.
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20. Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease of the brain caused by mutations in the NOTCH3 receptor. The highly stereotyped nature of the mutations, which alter the number of cysteine residues within the epidermal growth factor-like repeats (EGFR), predicts
Oxford University Press.
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21. A patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) confirmed by sural nerve biopsy.