title: Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.
abstract: Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset of rapid motor and cognitive regression and hypotonia evolving into spasticity. Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parkinsonism with cognitive impairment. Phenotypic spectrum continues to evolve and genotype-phenotype correlations are currently limited. Due to the overlapping phenotypes and heterogeneity of clinical findings characterization of the syndrome is not always achievable. We reviewed the most recent clinical and neuroradiological information in the way to make easier differential diagnosis with other degenerative disorders in the paediatric age. Recognizing subtle signs and symptoms is a fascinating challenge to drive towards better diagnostic and genetic investigations.
authors.affiliation: Child Neurology Unit, Arcispedale Santa Maria Nuova Hospital - IRCCS, Reggio Emilia, Italy. Electronic address: alle.iodice@gmail.com.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Iodice
authors.affiliation: Child Neurology Unit, Arcispedale Santa Maria Nuova Hospital - IRCCS, Reggio Emilia, Italy.
authors.forename: Carlotta
authors.initials: C
authors.lastname: Spagnoli
authors.affiliation: Child Neurology Unit, Arcispedale Santa Maria Nuova Hospital - IRCCS, Reggio Emilia, Italy.
authors.forename: Grazia Gabriella
authors.initials: GG
authors.lastname: Salerno
authors.affiliation: Child Neurology Unit, Arcispedale Santa Maria Nuova Hospital - IRCCS, Reggio Emilia, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Frattini
authors.affiliation: Child Neurology Unit, Arcispedale Santa Maria Nuova Hospital - IRCCS, Reggio Emilia, Italy.
authors.forename: Gianna
authors.initials: G
authors.lastname: Bertani
authors.affiliation: Pediatric Neurology Unit, Department of Mother & Child, University Hospital of Modena, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Bergonzini
authors.affiliation: Child Neuropsychiatry Unit, Neuroscience Department, University of Parma, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Pisani
authors.affiliation: Child Neurology Unit, Arcispedale Santa Maria Nuova Hospital - IRCCS, Reggio Emilia, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Fusco
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D042241:Early Diagnosis; D054522:Group VI Phospholipases A2 / Q000235:genetics*; D006801:Humans; D007223:Infant; D019150:Neuroaxonal Dystrophies / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D019636:Neurodegenerative Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology
chemical_list: D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human
keywords: Atypical NAD; Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation; PLA2G6; PLAN