title: Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.
abstract: Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity. The neuroradiologic hallmark of the disease is represented by cerebellar atrophy and signal hyperintensity in the cerebellar cortex on MR T2-weighted images. We report a 2-year-old boy with psychomotor regression and hypotonia carrying a homozygous 5' splice site mutation in PLA2G6 gene, whose brain MRI revealed cerebellar atrophy with normal cerebellar cortex signal intensity. The absence of the signal hyperintensity of the cerebellar cortex does not rule out the diagnosis of INAD.
authors.affiliation: Muscular and Neurodegenerative Disease Unit, University of Genova, Istituto G Gaslini, Largo G Gaslini 5, Genova, Italy. roberta@biancheri.com
authors.forename: Roberta
authors.initials: R
authors.lastname: Biancheri
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Giannina
authors.initials: G
authors.lastname: Alpigiani
authors.forename: Mirella
authors.initials: M
authors.lastname: Filocamo
authors.forename: Carlo
authors.initials: C
authors.lastname: Gandolfo
authors.forename: Renata
authors.initials: R
authors.lastname: Lorini
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
mesh_terms: D001284:Atrophy; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D054522:Group VI Phospholipases A2; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D019150:Neuroaxonal Dystrophies / Q000235:genetics* / Q000473:pathology*; D010741:Phospholipases A / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics
chemical_list: D022821:RNA Splice Sites; D010741:Phospholipases A; D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human