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Titolo:
Cadasil - Clinical features, neuroradiology, genetics and diagnosis
Autore:
Mellies, JK; Calabrese, P; Roth, H; Gehlen, W;
Indirizzi:
Ruhr Univ Bochum, Westfal Zentrum Psychiat & Psychotherapie Bochum, D-44791 Bochum, Germany Ruhr Univ Bochum Bochum Germany D-44791 Bochum, D-44791 Bochum, Germany Ruhr Univ Bochum, Knappschaftskrankenhaus Bochum Langendreer, Neurol Klin,Bochum, Germany Ruhr Univ Bochum Bochum Germany angendreer, Neurol Klin,Bochum, Germany Klinikum Osnabruck, Inst Med Genet, Osnabruck, Germany Klinikum OsnabruckOsnabruck Germany Inst Med Genet, Osnabruck, Germany
Titolo Testata:
FORTSCHRITTE DER NEUROLOGIE PSYCHIATRIE
fascicolo: 9, volume: 67, anno: 1999,
pagine: 426 - 433
SICI:
0720-4299(199909)67:9<426:C-CFNG>2.0.ZU;2-A
Fonte:
ISI
Lingua:
GER
Soggetto:
AUTOSOMAL-DOMINANT ARTERIOPATHY; SUBCORTICAL INFARCTS; LEUKOENCEPHALOPATHY CADASIL; NOTCH3 MUTATIONS; WHITE-MATTER; MRI LESIONS; DEMENTIA; FAMILY; MIGRAINE; SKIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
49
Recensione:
Indirizzi per estratti:
Indirizzo: Mellies, JK Ruhr Univ Bochum, Westfal Zentrum Psychiat & Psychotherapie Bochum, Alexandrinenstr 1, D-44791 Bochum, Germany Ruhr Univ Bochum Alexandrinenstr 1 Bochum Germany D-44791 any
Citazione:
J.K. Mellies et al., "Cadasil - Clinical features, neuroradiology, genetics and diagnosis", F NEUR PSYC, 67(9), 1999, pp. 426-433

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral vasculopathy progressing to subcortical dementia, caused by multiple lacunar infarcts and ischemicwhite matter degeneration. Migraine with aura, epileptic seizures and affective disorders are frequent additional symptoms of CADASIL. The causative mutations of the Notch3 gene are located on chromosome 19p13.1. There is complete penetrance of this disorder, although individual expression of symptoms may vary. Manifestation of CADASIL is usually in the 3(rd) decade, but some individuals remain asymptomatic close to the age of 60. MRI displays amarked leukoencephalopathy in affected individuals as early as in the age of 20. Frontal and subcortical hypoperfusion in demented individuals was demonstrated by SPECT-studies. The prevalence of CADASIL is still not known. To date there is no causative therapy.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 14:55:11