A 30-year Follow-Up of a Neuronal Ceroid Lipofuscinosis Patient With Mutations in CLN3 and Protracted Disease Course
Received 13 June 2008; accepted 20 October 2008.
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.
∗Pediatric Neurology–Department of Pediatric and Adolescent Medicine, Helsinki University Central Hospital, University of Helsinki, Finland
†BioMag Laboratory–HUSLAB, Helsinki University Central Hospital, University of Helsinki, Finland
‡Department of Clinical Neurophysiology–Hospital for Children and Adolescents, Helsinki University Central Hospital, University of Helsinki, Finland
§Helsinki Medical Imaging Center, Helsinki University Central Hospital, University of Helsinki, Finland
‖MRC Laboratory for Molecular Cell Biology; Molecular Medicine Unit, Institute of Child Health; and Department of Genetics, Evolution and Environment, University College London, London, United Kingdom
Communications should be addressed to: Dr. Åberg; Hakolahdentie 2 D 46; 00200 Helsinki; Finland.
ABSTRACT