The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression - Mignarri, Andrea; Dotti, Maria Teresa; Federico, Antonio; De Stefano, Nicola; Battaglini, Marco; Grazzini, Irene; Galluzzi, Paolo; Monti, Lucia (Journal of neurology, 2017)
Keywords: Adolescent; Adult; Aged; Atrophy; Brain; Brain - diagnostic imaging; Brain stem; Calcification; Cerebellum; Chenodeoxycholic acid; Cortex; Disease Progression; Female; Follow-Up Studies; Humans; Image Processing, Computer-Assisted; Magnetic resonance imaging; Magnetic Resonance Imaging - methods; Male; Medicine; Medicine & Public Health; Middle Aged; Neurological complications; Neurology; Neuroradiology; Neurosciences; Original Communication; Severity of Illness Index; Substantia alba; Vacuoles; Xanthomatosis; Xanthomatosis, Cerebrotendinous - diagnostic imaging; Xanthomatosis, Cerebrotendinous - pathology; Xanthomatosis, Cerebrotendinous - physiopathology; Young Adult; Dentate nuclei; Cerebellar vacuolation; Cerebrotendinous xanthomatosis; Chenodeoxycholic acid; MRI