Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
THE PHENOTYPIC SPECTRUM OF CADASIL - CLINICAL FINDINGS IN 102 CASES
Autore:
DICHGANS M; MAYER M; UTTNER I; BRUNING R; MULLERHOCKER J; RUNGGER G; EBKE M; KLOCKGETHER T; GASSER T;
Indirizzi:
UNIV MUNICH,KLINIKUM GROSSHADERN,DEPT NEUROL,MARCHIONINISTR 15 D-81377 MUNICH GERMANY UNIV MUNICH,KLINIKUM GROSSHADERN,DEPT RADIOL D-81377 MUNICH GERMANY UNIV MUNICH,DEPT PATHOL D-81377 MUNICH GERMANY KRANKENHAUS BREMEN OST,DEPT NEUROL BREMEN GERMANY UNIV TUBINGEN,DEPT NEUROL D-7400 TUBINGEN GERMANY INNSBRUCK UNIV,DEPT NEUROL A-6020 INNSBRUCK AUSTRIA
Titolo Testata:
Annals of neurology
fascicolo: 5, volume: 44, anno: 1998,
pagine: 731 - 739
SICI:
0364-5134(1998)44:5<731:TPSOC->2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
AUTOSOMAL-DOMINANT ARTERIOPATHY; FAMILIAL HEMIPLEGIC MIGRAINE; MULTI-INFARCT DEMENTIA; SURAL NERVE BIOPSY; SUBCORTICAL INFARCTS; LEUKOENCEPHALOPATHY CADASIL; NOTCH3 MUTATIONS; STROKE; IDENTIFICATION; DIAGNOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
47
Recensione:
Indirizzi per estratti:
Citazione:
M. Dichgans et al., "THE PHENOTYPIC SPECTRUM OF CADASIL - CLINICAL FINDINGS IN 102 CASES", Annals of neurology, 44(5), 1998, pp. 731-739

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an increasingly recognized autosomal dominant disorder that leads to cerebrovascular manifestations in early adulthood. This study delineates the phenotypic spectrum and the natural history of the disease in 102 affected individuals from 29 families with biopsy-proven CADASIL. Recurrent ischemic episodes (transient ischemic attack [TIA] or stroke) were the most frequent presentationfound in 71% of the cases (mean age at onset, 46.1 years; range, 30-66 years; SD, 9.0 years). Forty-eight percent of the cases had developed cognitive deficits. Dementia (28%) was frequently accompanied by gait disturbance (90%), urinary incontinence (86%), and pseudobulbar palsy (52%). Thirty-nine patients (38%) had a history of migraine (mean age at onset, 26.0 years; SD, 8.2 years), which was classified as migraine with aura in 87% of the cases. Psychiatric disturbances were present in 30% of the cases, with adjustment disorder (24%) being the most frequent diagnosis. Ten patients (10%) had a history of epileptic seizures. To delineate the functional consequences of ischemic deficits, westudied the extent of disability in different age groups. The full spectrum of disability was seen in all groups older than age 45. Fifty-five percent of the patients older than age 60 were unable to walk without assistance. However, 14% in this age group exhibited no disabilityat all. Kaplan-Meier analysis disclosed median survival times of 64 years (males) and 69 years (females). An investigation of the 18 multiplex families revealed marked intrafamilial variations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/07/20 alle ore 07:48:55