Literature DB >> 29473566

MRI pattern approach of adult-onset inherited leukoencephalopathies.

Pierre Labauge1, Clarisse Carra-Dalliere1, Nicolas Menjot de Champfleur1, Xavier Ayrignac1, Odile Boespflug-Tanguy1.   

Abstract

White matter hyperintensities are frequently encountered in clinical practice. In adulthood, white matter hyperintensities are generally related to acquired disorders, such as vascular, inflammatory, or demyelinating diseases. Symmetrical and confluent white matter abnormalities on the first available MRI suggest a genetic disorder. In this article, we provide keys to recognize and classify the adult-onset forms of inherited leukoencephalopathies and to identify their causes by targeting specific biochemical or molecular biomarkers.

Entities:  

Year:  2014        PMID： 29473566      PMCID： PMC5764526          DOI： 10.1212/CPJ.0000000000000047

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN： 2163-0402


  20 in total

Review 1.  Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.

Authors:  Katayoun Vahedi; Sonia Alamowitch
Journal:  Curr Opin Neurol       Date:  2011-02       Impact factor: 5.710

2.  Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

Authors:  P A J Leegwater; P K I Boor; B Q Yuan; J van der Steen; A Visser; A A M Könst; C B M Oudejans; R B H Schutgens; J C Pronk; M S van der Knaap
Journal:  Hum Genet       Date:  2002-02-08       Impact factor: 4.132

3.  Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Authors:  Fanny Mochel; Raphael Schiffmann; Marjan E Steenweg; Hasan O Akman; Mary Wallace; Frédéric Sedel; Pascal Laforêt; Richard Levy; J Michael Powers; Sophie Demeret; Thierry Maisonobe; Roseline Froissart; Bruno Barcelos Da Nobrega; Brent L Fogel; Marvin R Natowicz; Catherine Lubetzki; Alexandra Durr; Alexis Brice; Hanna Rosenmann; Varda Barash; Or Kakhlon; J Moshe Gomori; Marjo S van der Knaap; Alexander Lossos
Journal:  Ann Neurol       Date:  2012-09       Impact factor: 10.422

4.  Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

Authors:  Pierre Labauge; Laetitia Horzinski; Xavier Ayrignac; Pierre Blanc; Sandra Vukusic; Diana Rodriguez; Francois Mauguiere; Laure Peter; Cyril Goizet; Francoise Bouhour; Christian Denier; Christian Confavreux; Michael Obadia; Frederic Blanc; Jérome de Sèze; Anne Fogli; Odile Boespflug-Tanguy
Journal:  Brain       Date:  2009-08       Impact factor: 13.501

Review 5.  Cadasil.

Authors:  Hugues Chabriat; Anne Joutel; Martin Dichgans; Elizabeth Tournier-Lasserve; Marie-Germaine Bousser
Journal:  Lancet Neurol       Date:  2009-07       Impact factor: 44.182

6.  COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Authors:  Elly Verbeek; Marije E C Meuwissen; Frans W Verheijen; Paul P Govaert; Daniel J Licht; Debbie S Kuo; Cathryn J Poulton; Rachel Schot; Maarten H Lequin; Jeroen Dudink; Dicky J Halley; René I F de Coo; Jan C den Hollander; Renske Oegema; Douglas B Gould; Grazia M S Mancini
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

Review 7.  Fabry's disease.

Authors:  Yuri A Zarate; Robert J Hopkin
Journal:  Lancet       Date:  2008-10-18       Impact factor: 79.321

8.  A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13.

Authors:  Dominique Hervé; Hugues Chabriat; Mélanie Rigal; Marie-Amelie Dalloz; Aida Kawkabani Marchini; Jean De Lepeleire; Bertrand Fontaine; Chantal Ceuterick-de Groote; Nassira Alili; Manuele Mine; Audrey Delaforge; Marie-Germaine Bousser; Jean-Pierre Guichard; Jean-Jacques Martin; Françoise Gray; Elisabeth Tournier-Lasserve
Journal:  Neurology       Date:  2012-11-21       Impact factor: 9.910

9.  Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients.

Authors:  L Pantoni; F Pescini; S Nannucci; C Sarti; S Bianchi; M T Dotti; A Federico; D Inzitari
Journal:  Neurology       Date:  2010-01-05       Impact factor: 9.910

10.  COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

Authors:  Emmanuelle Plaisier; Olivier Gribouval; Sonia Alamowitch; Béatrice Mougenot; Catherine Prost; Marie Christine Verpont; Béatrice Marro; Thomas Desmettre; Salomon Yves Cohen; Etienne Roullet; Michel Dracon; Michel Fardeau; Tom Van Agtmael; Dontscho Kerjaschki; Corinne Antignac; Pierre Ronco
Journal:  N Engl J Med       Date:  2007-12-27       Impact factor: 91.245
View more
  1 in total

1.  MRI pattern approach of adult-onset inherited leukoencephalopathies.

Authors:  Joel C Morgenlander
Journal:  Neurol Clin Pract       Date:  2016-04
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.