Literature DB >> 16952472

Acute fright induces onset of symptoms in vanishing white matter disease-case report.

M Kaczorowska1, D Kuczynski, E Jurkiewicz, G C Scheper, M S van der Knaap, S Jozwiak.   

Abstract

Vanishing white matter disease is a newly recognised leukoencephalopathy of identified genetic background, characterised by cystic degeneration and progressive vanishing of white matter. The characteristic clinical symptoms are spasticity and ataxia with relatively preserved cognitive functions. A characteristic feature of the disease is the occurrence of the symptoms after a physical stress situation such as mild head trauma or febrile infection. We would like to present a case of a 6-year-old girl whose first symptoms of the disease occurred after being frightened by a horse.

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Year:  2006        PMID: 16952472     DOI: 10.1016/j.ejpn.2006.05.008

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN: 1090-3798            Impact factor:   3.140


  10 in total

1.  Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.

Authors:  Roberta La Piana; Adeline Vanderver; Marjo van der Knaap; Louise Roux; Donatella Tampieri; Bernard Brais; Geneviève Bernard
Journal:  Arch Neurol       Date:  2012-06

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.  Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene.

Authors:  Ibrahim Imam; Jeremy Brown; Philip Lee; P K Thomas; Hadi Manji
Journal:  BMJ Case Rep       Date:  2011-03-24

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

6.  A point mutation in translation initiation factor eIF2B leads to function--and time-specific changes in brain gene expression.

Authors:  Liraz Marom; Igor Ulitsky; Yuval Cabilly; Ron Shamir; Orna Elroy-Stein
Journal:  PLoS One       Date:  2011-10-31       Impact factor: 3.240

7.  Modeling vanishing white matter disease with patient-derived induced pluripotent stem cells reveals astrocytic dysfunction.

Authors:  Ling Zhou; Peng Li; Na Chen; Li-Fang Dai; Kai Gao; Yi-Nan Liu; Li Shen; Jing-Min Wang; Yu-Wu Jiang; Ye Wu
Journal:  CNS Neurosci Ther       Date:  2019-02-05       Impact factor: 5.243

8.  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

9.  A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease.

Authors:  Rogerio A de Almeida; Anne Fogli; Marina Gaillard; Gert C Scheper; Odile Boesflug-Tanguy; Graham D Pavitt
Journal:  PLoS One       Date:  2013-01-15       Impact factor: 3.240

Review 10.  Vanishing white matter disease in a spanish population.

Authors:  Eulàlia Turón-Viñas; Mercè Pineda; Victòria Cusí; Eduardo López-Laso; Rebeca Losada Del Pozo; Luis González Gutiérrez-Solana; David Conejo Moreno; Concha Sierra-Córcoles; Naiara Olabarrieta-Hoyos; Marcos Madruga-Garrido; Javier Aguirre-Rodríguez; Verónica González-Álvarez; Mar O'Callaghan; Jordi Muchart; Judith Armstrong-Moron
Journal:  J Cent Nerv Syst Dis       Date:  2014-07-13
  10 in total

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