title: Neuronal ceroid lipofuscinoses in childhood.
abstract: NCL disorders are progressive brain diseases with an autosomal recessive inheritance in all eleven childhood types. These occur world-wide but may be enriched in some countries. In Finland altogether about 400 patients have been diagnosed during the last forty years. The most common types are the infantile and classic juvenile forms with an incidence of 1: 20,000 and 1: 21,000, respectively Personally followed-up are patients with infantile, classic and Finnish variant late infantile and classic juvenile types. Clinical, neurophysiological and neuroimaging findings in these four NCL forms are reviewed including also management and diagnostic aspects.
authors.affiliation: Department of Paediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Finland.
authors.forename: P
authors.initials: P
authors.lastname: Santavuori
authors.forename: L
authors.initials: L
authors.lastname: Lauronen
authors.forename: E
authors.initials: E
authors.lastname: Kirveskari
authors.forename: L
authors.initials: L
authors.lastname: Aberg
authors.forename: K
authors.initials: K
authors.lastname: Sainio
authors.forename: T
authors.initials: T
authors.lastname: Autti
mesh_terms: D002648:Child; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D005073:Evoked Potentials, Somatosensory; D005074:Evoked Potentials, Visual; D006801:Humans; D015225:Magnetoencephalography; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications / Q000175:diagnosis* / Q000628:therapy