title: Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.
abstract: Infantile neuronal axonal dystrophy (INAD) is characterized by progressive cerebellar atrophy. MRI has been recommended as a marker of disease progression in cerebellar diseases. We performed a longitudinal brain volumetry study in a couple of bicorial twins with PLA2G6-positive INAD. Brain volumetry was calculated with FreeSurfer software on 3T T1-weighted images acquired at age 28 (t0) and 36 months (t1) in patient 1 and at age 22 (t0) and 31 months (t1) in patient 2. Data at t0were compared to those obtained in 18 control children aged 14-44 months with normal MRI. At t0, both patients showed markedly lower cerebellar volume compared to controls. At t1, both patients exhibited a remarkable decrease of cerebellar volume (-25.8% in patient 1; -16.5% in patient 2) and of frontal (-6.8% in patient 1 and -3.3% in patient 2) and occipital (-9.8% in patient 1 and -9.1% in patient 2) cortical GM volume. Our MRI morphometry study indicates that INAD is characterized by a remarkably fast progression of cerebellar atrophy and mild atrophy of the frontal and occipital cortex presumably secondary to deafferentation in the cortical-pons-cerebellum-rubro-thalamus-cortical circuit and visual pathways.
authors.affiliation: Neuroradiology, Meyer Children's Hospital, Florence, Italy. mario.mascalchi@unifi.it.|"Mario Serio" Department of Experimental and Clinical Biomedical Sciences, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy. mario.mascalchi@unifi.it.
authors.forename: Mario
authors.initials: M
authors.lastname: Mascalchi
authors.affiliation: Neurology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Mari
authors.affiliation: Neurology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
authors.forename: Beatrice
authors.initials: B
authors.lastname: Berti
authors.affiliation: Neurology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Bartolini
authors.affiliation: Neurology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Lenge
authors.affiliation: Neuroradiology, Meyer Children's Hospital, Florence, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Bianchi
authors.affiliation: Neuroradiology, Meyer Children's Hospital, Florence, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Antonucci
authors.affiliation: IRCCS Stella Maris Foundation, Pisa, Italy.
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.affiliation: Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Garavaglia
authors.affiliation: Neurology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.|IRCCS Stella Maris Foundation, Pisa, Italy.
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
mesh_terms: D001284:Atrophy; D001369:Axons / Q000473:pathology*; D002526:Cerebellar Diseases / Q000473:pathology; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D054522:Group VI Phospholipases A2 / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D019150:Neuroaxonal Dystrophies / Q000175:diagnosis / Q000235:genetics*
chemical_list: D054522:Group VI Phospholipases A2
keywords: Brain mapping; Cerebellar degeneration; MRI; Pediatric