Literature DB >> 23355563

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): a rare cause of dementia.

Thelma K Toni-Uebari1.   

Abstract

The clinical course of a 60-year-old gentleman with a history of atypical migraine, recurrent encephalopathic episodes and progressive cognitive impairment is presented. He was diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy, a rare genetic disorder of the cerebral blood vessels caused by mutations in the Notch 3 gene on chromosome 19. The diagnosis was confirmed by MRI, skin biopsy and genetic testing. His cognitive function has progressively deteriorated and he continues to receive supportive care provision. The course and review of the condition are highlighted.

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Year:  2013        PMID: 23355563      PMCID: PMC3604186          DOI: 10.1136/bcr-2012-007285

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  11 in total

1.  Acetazolamide for the treatment of migraine with aura in CADASIL.

Authors:  A M Forteza; B Brozman; A A Rabinstein; J G Romano; W G Bradley
Journal:  Neurology       Date:  2001-12-11       Impact factor: 9.910

2.  Acetazolamide-responsive migraine in CADASIL.

Authors:  M Weller; J Dichgans; T Klockgether
Journal:  Neurology       Date:  1998-05       Impact factor: 9.910

3.  [CADASIL: Case report and literature review].

Authors:  Kappa Katsafouros; E Finokaliotis; E Rizos; A Papadopoulou; K Sakellaropoulos
Journal:  Psychiatriki       Date:  2008-01

4.  The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland.

Authors:  S S M Razvi; R Davidson; I Bone; K W Muir
Journal:  J Neurol Neurosurg Psychiatry       Date:  2005-05       Impact factor: 10.154

5.  The natural history of CADASIL: a pooled analysis of previously published cases.

Authors:  D W Desmond; J T Moroney; T Lynch; S Chan; S S Chin; J P Mohr
Journal:  Stroke       Date:  1999-06       Impact factor: 7.914

6.  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease.

Authors:  Jay Chol Choi
Journal:  J Clin Neurol       Date:  2010-03-26       Impact factor: 3.077

7.  Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL.

Authors:  Martin Dichgans; Hugh S Markus; Stephen Salloway; Auli Verkkoniemi; Margaret Moline; Qin Wang; Holly Posner; Hugues S Chabriat
Journal:  Lancet Neurol       Date:  2008-02-28       Impact factor: 44.182

8.  Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients.

Authors:  Christian Opherk; Nils Peters; Jürgen Herzog; Rainer Luedtke; Martin Dichgans
Journal:  Brain       Date:  2004-09-13       Impact factor: 13.501

9.  Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Authors:  H Chabriat; K Vahedi; M T Iba-Zizen; A Joutel; A Nibbio; T G Nagy; M O Krebs; J Julien; B Dubois; X Ducrocq
Journal:  Lancet       Date:  1995-10-07       Impact factor: 79.321

10.  Acetazolamide for the prophylaxis of migraine in CADASIL: a preliminary experience.

Authors:  Ida Donnini; Serena Nannucci; Raffaella Valenti; Francesca Pescini; Silvia Bianchi; Domenico Inzitari; Leonardo Pantoni
Journal:  J Headache Pain       Date:  2012-02-25       Impact factor: 7.277

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  3 in total

1.  A series of Notch3 mutations in CADASIL; insights from 3D molecular modelling and evolutionary analyses.

Authors:  Dimitrios Vlachakis; Spyridon Champeris Tsaniras; Katerina Ioannidou; Louis Papageorgiou; Marc Baumann; Sophia Kossida
Journal:  J Mol Biochem       Date:  2014

2.  CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) presenting as psychosis.

Authors:  Dheerendra Kumar Mishra; Aman Kishore; Vijay Niranjan
Journal:  Gen Psychiatr       Date:  2018-11-10

Review 3.  Relevance of Notch Signaling for Bone Metabolism and Regeneration.

Authors:  Tobias M Ballhause; Shan Jiang; Anke Baranowsky; Sabine Brandt; Peter R Mertens; Karl-Heinz Frosch; Timur Yorgan; Johannes Keller
Journal:  Int J Mol Sci       Date:  2021-01-29       Impact factor: 5.923

  3 in total

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