Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.
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.
Luisa
L
Sambati
Raffaele
R
Agati
Antonella
A
Bacci
Silvia
S
Bianchi
Sabina
S
Capellari
D000328:Adult; D018450:Disease Progression; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D013997:Time Factors
D020717:Eukaryotic Initiation Factor-2B