Literature DB >> 20329594

A case report about CADASlL: mutation in the NOTCH 3 receptor.

Sennur Delibas1, Hayat Guven, Selim Selcuk Comoglu.   

Abstract

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare autosomal dominant genetic disease characterized with recurrent stroke, migrainous headache, cognitive deficits, and psychiatric symptoms associated with mutations in the NOTCH 3 gene on chromosome 19. Here, we report a case of CADASIL who presented with migrainous headache, behavioral disorder, and familial history of stroke and the diagnosis was established by the findings of head magnetic resonance images revealing characteristic white matter lesions and a mutation in the NOTCH 3 gene.

Entities:  

Mesh:

Substances:

Year:  2009        PMID: 20329594

Source DB:  PubMed          Journal:  Acta Neurol Taiwan        ISSN: 1028-768X


  4 in total

1.  Neoplastic lesions in CADASIL syndrome: report of an autopsied Japanese case.

Authors:  Wael Abdo Hassan; Naoka Udaka; Akihiko Ueda; Yukio Ando; Takaaki Ito
Journal:  Int J Clin Exp Pathol       Date:  2015-06-01

2.  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.

Authors:  Radi Shahien; Silvia Bianchi; Abdalla Bowirrat
Journal:  Neuropsychiatr Dis Treat       Date:  2011-06-20       Impact factor: 2.570

3.  KCTD10 is involved in the cardiovascular system and Notch signaling during early embryonic development.

Authors:  Kaiqun Ren; Jing Yuan; Manjun Yang; Xiang Gao; Xiaofeng Ding; Jianlin Zhou; Xingwang Hu; Jianguo Cao; Xiyun Deng; Shuanglin Xiang; Jian Zhang
Journal:  PLoS One       Date:  2014-11-17       Impact factor: 3.240

4.  R141C Mutation of NOTCH3 Gene in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Authors:  Halil Onder; Kemal Kurtcu; Ethem Murat Arsava; Mehmet Akif Topcuoglu
Journal:  J Neurosci Rural Pract       Date:  2017 Apr-Jun
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.