Neurological Sciences

, Volume 34, Issue 7, pp 1235–1238 | Cite as

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 SambatiEmail author
  • Raffaele Agati
  • Antonella Bacci
  • Silvia Bianchi
  • Sabina Capellari
Letter to the Editor


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.


Cerebellar Ataxia Proton Magnetic Resonance Spectroscopy Leukodystrophy White Matter Disease Secondary Amenorrhea 
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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Luisa Sambati
    • 1
    Email author
  • Raffaele Agati
    • 2
    • 3
  • Antonella Bacci
    • 2
    • 3
  • Silvia Bianchi
    • 4
  • Sabina Capellari
    • 1
  1. 1.Dipartimento di Scienze NeurologicheIRCCS, Istituto delle Scienze NeurologicheBolognaItaly
  2. 2.IRCCS Istituto delle Scienze Neurologiche di BolognaBolognaItaly
  3. 3.UOC di NeuroradiologiaOspedale BellariaBolognaItaly
  4. 4.Department of Neurological and Behavioral SciencesUniversity of SienaSienaItaly

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