title: A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.
abstract: Reported here is the 30-year follow-up of a patient, diagnosed with juvenile neuronal ceroid lipofuscinosis, who was compound heterozygous for the common 1-kb deletion and the missense mutation p.Glu295Lys in the CLN3 gene. Visual failure was noticed at 6 years of age, but thereafter disease progression was atypical. Polyneuropathy and cerebellar signs were observed after age 20, and epilepsy and slight mental decline after age 35. From then on, there was rapid deterioration, and the patient died at age 39. This case highlights the importance of exact genotyping for disease course prediction and management.
authors.affiliation: Pediatric Neurology-Department of Pediatric and Adolescent Medicine, Helsinki University Central Hospital, University of Helsinki, Finland. laura.aberg@fimnet.fi
authors.forename: Laura
authors.initials: L
authors.lastname: Aberg
authors.forename: Leena
authors.initials: L
authors.lastname: Lauronen
authors.forename: Janne
authors.initials: J
authors.lastname: Hämäläinen
authors.forename: Sara E
authors.initials: SE
authors.lastname: Mole
authors.forename: Taina
authors.initials: T
authors.lastname: Autti
mesh_terms: D000328:Adult; D002526:Cerebellar Diseases; D003072:Cognition Disorders; D003638:Deafness; D018450:Disease Progression; D004827:Epilepsy; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D015225:Magnetoencephalography; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D018832:Molecular Chaperones / Q000235:genetics*; D020125:Mutation, Missense; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D011115:Polyneuropathies
chemical_list: C105199:CLN3 protein, human; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones