Vanishing white matter disease

An Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course

Luisa Sambati, Raffaele Agati, Antonella Bacci, Silvia Bianchi, Sabina Capellari

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

We report the clinical description of an Italian patient with c.638A>G mutation in exon 5 of EIF2B2 gene and a very slow progressive Vanishing White Matter disease phenotype. Infact, in relation to her causative mutation, our patient had an unusual early onset and long course. Furthermore, other than standard MRI examination and spectroscopy study, we report DWI and ADC maps and FA maps reconstruction from DTI in order to describe brain tissue degeneration in vanishing white matter disease.

Original languageEnglish
Pages (from-to)1235-1238
Number of pages4
JournalNeurological Sciences
Volume34
Issue number7
DOIs
Publication statusPublished - Jul 2013

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Leukoencephalopathies
Exons
Mutation
Genes
Spectrum Analysis
Phenotype
Brain

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology
  • Medicine(all)

Cite this

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AU - Agati, Raffaele

AU - Bacci, Antonella

AU - Bianchi, Silvia

AU - Capellari, Sabina

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