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Titolo:
Autosomal dominant Kufs' disease: a cause of early onset dementia
Autore:
Josephson, SA; Schmidt, RE; Millsap, P; McManus, DQ; Morris, JC;
Indirizzi:
Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Washington Univ St Louis MO USA 63110 Dept Neurol, St Louis, MO 63110 USA Washington Univ, Sch Med, Alzheimers Dis Res Ctr, St Louis, MO 63110 USA Washington Univ St Louis MO USA 63110 Dis Res Ctr, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Pathol Neuropathol, St Louis, MO 63110 USA Washington Univ St Louis MO USA 63110 Neuropathol, St Louis, MO 63110 USA So Illinois Univ, Sch Med, Dept Neurol, Springfield, IL 62794 USA So Illinois Univ Springfield IL USA 62794 urol, Springfield, IL 62794 USA
Titolo Testata:
JOURNAL OF THE NEUROLOGICAL SCIENCES
fascicolo: 1-2, volume: 188, anno: 2001,
pagine: 51 - 60
SICI:
0022-510X(20010715)188:1-2<51:ADKDAC>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEURONAL CEROID-LIPOFUSCINOSIS; FORM;
Keywords:
Kufs' disease; dementia; neuronal ceroid-lipofuscinoses;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Morris, JC Washington Univ, Sch Med, Dept Neurol, Campus Box 8111-ADRC,660S Euclid Ave, St Louis, MO 63110 USA Washington Univ Campus Box 8111-ADRC,660 S Euclid Ave St Louis MO USA 63110
Citazione:
S.A. Josephson et al., "Autosomal dominant Kufs' disease: a cause of early onset dementia", J NEUR SCI, 188(1-2), 2001, pp. 51-60

Abstract

Kufs' disease is the rare, adult-onset form of the neuronal ceroid-lipofuscinoses (NCL). Two clinical Kufs' phenotypes have been described, one featuring generalized tonic-clonic seizures and the other characterized by dementia. Autosomal dominant inheritance of Kufs' disease has been reported for only two families. The genetic and molecular defects underlying Kufs' disease are unknown. We report a third family with apparent autosomal dominant Kufs' disease ina family of English ancestry. Ten individuals (five men, five women) have been affected over five generations. Age of onset typically is in the fourth decade of life and is heralded by seizures. Clinical and neuropsychological assessments in several affected individuals, however, confirm the presence of dementia and follow-up evaluations suggest that dementia is the primary disabling feature of the illness. Motor abnormalities also are frequent. Neuropathological examination (three cases) documents the presence of neuronal lipopigment accumulation consistent with NCL. The combination of dementia and seizures in this and two other reported families with autosomal dominant Kufs' disease suggest that this entity represents a distinctive clinicopathological. entity. Dementia is prominent but is almost always associated with generalized seizures and motoric disturbances early in the disease course. Kufs' disease should be considered in the differential diagnosis of early onset. atypical dementia. (C) 2001 ElsevierScience B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/09/20 alle ore 07:52:40