Literature DB >> 9258967

The Aircardi-Goutières syndrome: variable clinical expression in two siblings.

A Verrips1, J A Hiel, F J Gabreëls, P Wesseling, J J Rotteveel.   

Abstract

We report 2 siblings with the Aicardi-Goutières syndrome (encephalopathy, basal ganglia calcifications, and persistent cerebrospinal fluid pleiocytosis). The eldest sibling is severely retarded; his younger brother has only mild, slowly progressive neurological deficits. To our knowledge, such a striking difference in clinical expression has not been reported previously.

Entities:  

Mesh：

Year:  1997        PMID： 9258967     DOI： 10.1016/s0887-8994(97)00028-3

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  2 in total

1.  Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Authors:  Y J Crow; A P Jackson; E Roberts; E van Beusekom; P Barth; P Corry; C D Ferrie; B C Hamel; R Jayatunga; G Karbani; R Kálmánchey; A Kelemen; M King; R Kumar; J Livingstone; R Massey; R McWilliam; A Meager; C Rittey; J B Stephenson; J L Tolmie; A Verrips; T Voit; H van Bokhoven; H G Brunner; C G Woods
Journal:  Am J Hum Genet       Date:  2000-05-25       Impact factor: 11.025

2.  Regression of white matter hypodensities with age in Aicardi-Goutierés syndrome: a case report.

Authors:  Sanjeev V Kothare; Sona A Pungavkar; Deepak P Patkar; Nisha I Sainani; Martand H Naik; Sameeer Gadani
Journal:  Childs Nerv Syst       Date:  2006-06-27       Impact factor: 1.475
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.