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Titolo:
CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, GENETIC HOMOGENEITY, AND MAPPING OF THE LOCUS WITHIN A 2-CM INTERVAL
Autore:
DUCROS A; NAGY T; ALAMOWITCH S; NIBBIO A; JOUTEL A; VAHEDI K; CHABRIAT H; IBAZIZEN MT; JULIEN J; DAVOUS P; GOAS JY; LYONCAEN O; DUBOIS B; DUCROCQ X; SALSA F; RAGNO M; BURKHARD P; BASSETTI C; HUTCHINSON M; VERIN M; VIADER F; CHAPON F; LEVASSEUR M; MAS JL; DELRIEU O; MACIAZEK J; PRIEUR M; MOHRENWEISER H; BACH JF; BOUSSER MG; TOURNIERLASSERVE E;
Indirizzi:
FAC MED NECKER ENFANTS MALAD,INSERM,U25,156 RUE VAUGIRARD F-75015 PARIS FRANCE CHU ST ANTOINE,INSERM,U25 PARIS FRANCE CHU ST ANTOINE,SERV NEUROL PARIS FRANCE IRM HOP QUINZE VINGT PARIS FRANCE HOP ARGENTEUIL ARGENTEUIL FRANCE CHU PITIE SALPETRIERE PARIS FRANCE HOP ORSAY ORSAY FRANCE CTR HOSP ST ANNE PARIS FRANCE LAB CYTOGENET PARIS FRANCE HOP HAUT LEVEQUE PESSAC FRANCE CHU BREST F-29285 BREST FRANCE CHU NANCY NANCY FRANCE OSPED CIVILE BASSANO GRAPPA ITALY C&C MAZZONI HOSP ASCOLI PISCENO ITALY HOP CANTONAL GENEVA CH-1211 GENEVA SWITZERLAND HOP BERN BERN SWITZERLAND ST VINCENTS HOSP DUBLIN 4 IRELAND CHU RENNES RENNES FRANCE CHU CAEN CAEN FRANCE LAWRENCE LIVERMORE NATL LAB LIVERMORE CA 00000
Titolo Testata:
American journal of human genetics
fascicolo: 1, volume: 58, anno: 1996,
pagine: 171 - 181
SICI:
0002-9297(1996)58:1<171:CAAWSI>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEMENTIA; STROKES; MAPS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
A. Ducros et al., "CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, GENETIC HOMOGENEITY, AND MAPPING OF THE LOCUS WITHIN A 2-CM INTERVAL", American journal of human genetics, 58(1), 1996, pp. 171-181

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently identified autosomal dominant cerebral arteriopathy characterized by the recurrence of subcortical infarcts leading to dementia. A genetic linkage analysis conducted in two large families recently allowed us to map the affected gene on chromosome 19 in a 12-cM interval bracketed by D19S221 and D19S215. In the present study, these first 2 families and 13 additional ones, including a total of 199 potentially informative meiosis, have been genotyped with eight polymorphic markers located between D19S221 and D19S215. All families were linked to chromosome 19. The highest combined lod score (Z(max) = 37.24 at theta = .01) was obtained with marker D19S841, a new CA(n) microsatellite marker that we isolated from chromosome 19 cosmids. The recombinant events observed within these families were used to refine the genetic mapping of CADASIL within a 2-cM interval that is now bracketed by D19S226 and D19S139 on 19p13.1. These data strongly suggest the genetic homogeneity of this recently identified condition and establish the value of its clinical and neuroimaging diagnostic criteria. Besides their importance for the ongoing positional cloning of the CADASIL gene, these data help to refine the genetic mapping of CADASIL relative to familiar hemiplegic migraine and hereditaryparoxysmal cerebellar ataxia, conditions that we both mapped within the same chromosome 19 region.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 03:29:29