Document Detail


Diagnosis of CADASIL disease in normotensive and non-diabetics with lacunar infarct.
MedLine Citation:
PMID:  21345538     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
BACKGROUND: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is characterized by recurrent cerebral ischemic episodes of the lacunar subtype usually without traditional vascular risk factors. We investigated the frequency of CADASIL among selected patients with cerebral ischemia of the lacunar subtype. METHODS: we studied patients under 65 years old who presented cerebral ischemia of the lacunar subtype without hypertension, diabetes mellitus or other causes that explained the cerebral ischemia. On the skin biopsies, we performed immunostaining analysis on 5μm frozen sections with monoclonal antibody anti-Notch 3 (1E4). We also performed a genetic analysis of the Notch 3 gene (exons 3,4,5,6,11 and 19). RESULTS: of 1.519 patients analyzed, only 57 (3.7%) fulfilled the selection criteria, and 30 of them accepted to participated in the study. We studied 30 patients, mean age was 53 years (range 34 to 65), 50% were men and all patients suffered a lacunar stroke. Immunostaining analysis was positive in two patients (6.6%) and the genetic analysis confirmed a mutation characteristic of CADASIL in exon 4 nt 622C/T (Arg 182 Cys) and 694 T/C (Cys206Arg) respectively. CONCLUSIONS: CADASIL disease was present in 6.6% of patients younger than 65 years with a lacunar stroke and without hypertension or diabetes mellitus. Screening for CADASIL should be considered in these patients.
Authors:
D Cocho; J Martí-Fàbregas; M Baiget; E Gallardo; E Rio; A Arboix; J Ruscalleda; J L Martí-Vilalta
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-2-21
Journal Detail:
Title:  Neurologia (Barcelona, Spain)     Volume:  -     ISSN:  0213-4853     ISO Abbreviation:  -     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-2-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9005460     Medline TA:  Neurologia     Country:  -    
Other Details:
Languages:  ENG; SPA     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2010 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.
Affiliation:
Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, España.
Vernacular Title:
Diagnóstico de la enfermedad de CADASIL en pacientes normotensos y no diabéticos con infarto lacunar.
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