Genotype-phenotype correlation in vanishing white matter disease

van der Lei H. D. W., van Berkel C. G. M., van Wieringen W. N., Brenner C., Feigenbaum A., Mercimek-Mahmutoglu S., ...Daha Fazla

NEUROLOGY, cilt.75, sa.17, ss.1555-1559, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 75 Sayı: 17
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1212/wnl.0b013e3181f962ae
  • Dergi Adı: NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1555-1559
  • İstanbul Üniversitesi Adresli: Evet

Özet

Objective: Vanishing white matter (VWM) is an autosomal recessive leukoencephalopathy characterized by slowly progressive ataxia and spasticity with additional stress-provoked episodes of rapid and major deterioration. The disease is caused by mutations in the genes encoding the subunits of eukaryotic initiation factor 2B, which is pivotal in translation of mRNAs into proteins. The disease onset, clinical severity, and disease course of VWM vary greatly. The influence of genotype and gender on the phenotype is unclear.