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Titolo:
Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL
Autore:
Mayer, M; Straube, A; Bruening, R; Uttner, I; Pongratz, D; Gasser, T; Dichgans, M; Muller-Hocker, J;
Indirizzi:
Univ Munich, Klinikum Grosshadern, Dept Neurol, D-81377 Munich, Germany Univ Munich Munich Germany D-81377 Dept Neurol, D-81377 Munich, Germany Univ Munich, Klinikum Grosshadern, Inst Diagnost Radiol, D-81377 Munich, Germany Univ Munich Munich Germany D-81377 gnost Radiol, D-81377 Munich, Germany Univ Munich, Klinikum Grosshadern, Friedrich Baur Inst, D-81377 Munich, Germany Univ Munich Munich Germany D-81377 ch Baur Inst, D-81377 Munich, Germany Univ Munich, Klinikum Grosshadern, Dept Pathol, D-81377 Munich, Germany Univ Munich Munich Germany D-81377 Dept Pathol, D-81377 Munich, Germany
Titolo Testata:
JOURNAL OF NEUROLOGY
fascicolo: 7, volume: 246, anno: 1999,
pagine: 526 - 532
SICI:
0340-5354(199907)246:7<526:MASBAA>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
AUTOSOMAL-DOMINANT ARTERIOPATHY; FAMILIAL HEMIPLEGIC MIGRAINE; SURAL NERVE BIOPSY; SUBCORTICAL INFARCTS; LEUKOENCEPHALOPATHY CADASIL; NOTCH3 MUTATIONS; GERMAN FAMILY; DEMENTIA; STROKE; IDENTIFICATION;
Keywords:
CADASIL; cerebrovascular disease; skin biopsy; muscle biopsy; electron microscopy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Mayer, M Univ Munich, Klinikum Grosshadern, Dept Neurol, Marchioninistr 15, D-81377Munich, Germany Univ Munich Marchioninistr 15 Munich Germany D-81377 ch, Germany
Citazione:
M. Mayer et al., "Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL", J NEUROL, 246(7), 1999, pp. 526-532

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a microangiopathic syndrome. Although the defective gene has been identified, genetic analysis may be effort some due toits large size and various mutations. Providing a reliable diagnostic marker would therefore be helpful. Electron microscopy has revealed characteristic electron-dense granular deposits in the basal lamina of vessels of patients with CADASIL. We investigated the sensitivity of skin and muscle biopsies for diagnosing CADASIL. We examined 30 family members of three unrelated German families affected by CADASIL. In 14 of the 21 affected individualswe performed skin and muscle biopsies; two patients were clinically asymptomatic. Under electron microscopy all muscle and skin biopsy specimens showed patches of granular and electron-dense material in the basal layer of both arterioles and capillaries. These findings confirm that general microangiopathy is a typical feature of this syndrome and is present in the early phase of the disease with or without clinical manifestation. Thus, as electron microscopy of skin biopsy specimens can establish the diagnosis of CADASIL with high certainty, it may be considered the method of first choice.

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Documento generato il 25/09/20 alle ore 00:08:00