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Titolo:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Autore:
LaPoint, SF; Patel, U; Rubio, A;
Indirizzi:
Univ Rochester, Sch Med, Dept Pathol, Rochester, NY USA Univ Rochester Rochester NY USA Sch Med, Dept Pathol, Rochester, NY USA Univ Rochester, Sch Med, Dept Radiol, Rochester, NY USA Univ Rochester Rochester NY USA Sch Med, Dept Radiol, Rochester, NY USA
Titolo Testata:
ADVANCES IN ANATOMIC PATHOLOGY
fascicolo: 5, volume: 7, anno: 2000,
pagine: 307 - 321
SICI:
1072-4109(200009)7:5<307:CADAWS>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL HEMIPLEGIC MIGRAINE; CONDITION CAUSING STROKE; CENTRAL-NERVOUS-SYSTEM; NORTH-AMERICAN FAMILY; NOTCH3 MUTATIONS; WHITE-MATTER; ALZHEIMERS-DISEASE; SKIN BIOPSIES; MRI LESIONS; DEMENTIA;
Keywords:
CADASIL; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Notch3 gene; familial infarcts;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
91
Recensione:
Indirizzi per estratti:
Indirizzo: Rubio, A Univ Rochester, Med Ctr, Dept Pathol, Neuropathol Unit, 601 Elmwood Ave,POB 626,601 Elmwood Ave, Rochester, NY 14642 USA Univ Rochester 601 Elmwood Ave,POB 626,601 Elmwood Ave Rochester NY USA 14642
Citazione:
S.F. LaPoint et al., "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)", ADV ANAT PA, 7(5), 2000, pp. 307-321

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described neurovascular disease affecting young to middle age individuals. The disease is caused by mutationsin the Notch3 gene located in the short arm of chromosome 19. Clinically, the disease is characterized by migrainous headaches (with or without aura), mood disturbances, focal neurologic deficits, transient ischemic attacks,strokes, and dementia. Pathologically, the disease is characterized by a stereotypic degeneration of the arterial walls (especially in the intracranial compartments) with deposition in the media of a non-atheromatous, nonamyloidotic substance that under the electron microscope (EM) appears as a granular osmiophilic material (GOM), pathognomonic for the disease. The natureof the GOM is undetermined and the pathogenesis remains to be elucidated. A review of current literature in English language is presented on the clinical, radiologic, pathologic, and genetic features of CADASIL.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 12:14:43