Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter.
This is a multiparametric MR study of the first reported patient with adult-onset genetically confirmed vanishing white matter (VWM) disease. It shows that, despite the presence of a severe and diffuse damage of the brain WM, brain gray matter, and cervical cord tissue, the cortical adaptive capacities were relatively preserved. Interpatient variability of brain plasticity may contribute to the known phenotypic variation of patients with VWM disease.
Gallo
A
A
Neuroimaging Research Unit, Department of Neurology, Scientific Institute and University Ospedale San Raffaele, Milan, Italy.
Rocca
M A
MA
Falini
A
A
Scaglione
C
C
Salvi
F
F
Gambini
A
A
Guerrini
L
L
Mascalchi
M
M
Pronk
J C
JC
van der Knaap
M S
MS
Filippi
M
M
D001479:Basal Ganglia / Q000473:pathology; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D001931:Brain Mapping; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D020271:Heredodegenerative Disorders, Nervous System / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008875:Middle Aged; D020125:Mutation, Missense; D011597:Psychomotor Performance
D020717:Eukaryotic Initiation Factor-2B