Literature DB >> 15786451

Fright is a provoking factor in vanishing white matter disease.

Gerre Vermeulen1, Rainer Seidl, Saadet Mercimek-Mahmutoglu, Jan J Rotteveel, Gert C Scheper, Marjo S van der Knaap.   

Abstract

Leukoencephalopathy with vanishing white matter is an inherited disorder with a chronic progressive disease course and additional episodes of rapid neurological deterioration. These episodes typically are provoked by febrile infections or minor head trauma. We report on two patients who experienced an episode of rapid neurological deterioration after a fright.

Entities:  

Mesh：

Year:  2005        PMID： 15786451     DOI： 10.1002/ana.20418

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  11 in total

1.  Late onset vanishing white matter disease.

Authors:  Axel Riecker; Thomas Nägele; Marco Henneke; Ludger Schöls
Journal:  J Neurol       Date:  2007-03-31       Impact factor: 4.849

2.  Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.

Authors:  Cecilia Mancini; Giovanna Vaula; Laura Scalzitti; Simona Cavalieri; Enrico Bertini; Chiara Aiello; Cinzia Lucchini; Richard A Gatti; Alessandro Brussino; Alfredo Brusco
Journal:  Neurogenetics       Date:  2012-05-03       Impact factor: 2.660

3.  Similarities and differences between infantile and early childhood onset vanishing white matter disease.

Authors:  Ling Zhou; Haihua Zhang; Na Chen; Zhongbin Zhang; Ming Liu; Lifang Dai; Jingmin Wang; Yuwu Jiang; Ye Wu
Journal:  J Neurol       Date:  2018-04-16       Impact factor: 4.849

4.  EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Authors:  Martina Skopkova; Friederike Hennig; Byung-Sik Shin; Clesson E Turner; Daniela Stanikova; Katarina Brennerova; Juraj Stanik; Ute Fischer; Lyndal Henden; Ulrich Müller; Daniela Steinberger; Esther Leshinsky-Silver; Armand Bottani; Timea Kurdiova; Jozef Ukropec; Olga Nyitrayova; Miriam Kolnikova; Iwar Klimes; Guntram Borck; Melanie Bahlo; Stefan A Haas; Joo-Ran Kim; Leda E Lotspeich-Cole; Daniela Gasperikova; Thomas E Dever; Vera M Kalscheuer
Journal:  Hum Mutat       Date:  2017-01-23       Impact factor: 4.878

5.  Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A Single Center Experience from Southern India.

Authors:  Vykuntaraju K Gowda; Varunvenkat M Srinivasan; Balamurugan Nagarajan; Maya Bhat; Sanjay K Shivappa; Naveen Benakappa
Journal:  J Pediatr Genet       Date:  2020-07-27

Review 6.  Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.

Authors:  Yuting Ren; Xueying Yu; Bin Chen; Hefei Tang; Songtao Niu; Xingao Wang; Hua Pan; Zaiqiang Zhang
Journal:  Neurol Sci       Date:  2022-04-07       Impact factor: 3.830

7.  Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder.

Authors:  A Vanderver; Y Hathout; J Maletkovic; E S Gordon; M Mintz; M Timmons; E P Hoffman; L Horzinski; F Niel; A Fogli; O Boespflug-Tanguy; R Schiffmann
Journal:  Neurology       Date:  2008-06-03       Impact factor: 9.910

Review 8.  Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.

Authors:  David S Lynch; Charles Wade; Anderson Rodrigues Brandão de Paiva; Nevin John; Justin A Kinsella; Áine Merwick; Rebekah M Ahmed; Jason D Warren; Catherine J Mummery; Jonathan M Schott; Nick C Fox; Henry Houlden; Matthew E Adams; Indran Davagnanam; Elaine Murphy; Jeremy Chataway
Journal:  J Neurol Neurosurg Psychiatry       Date:  2018-11-22       Impact factor: 10.154

9.  Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.

Authors:  Carolyn Bursle; Eppie M Yiu; Alison Yeung; Jeremy L Freeman; Chloe Stutterd; Richard J Leventer; Adeline Vanderver; Joy Yaplito-Lee
Journal:  JIMD Rep       Date:  2019-11-12

10.  Diabetic ketoacidosis in vanishing white matter.

Authors:  Hannadi Alamri; Fuad Al Mutairi; Johara Alothman; Ali Alothaim; Majid Alfadhel; Ahmed Alfares
Journal:  Clin Case Rep       Date:  2016-06-17
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