A 30-year Follow-Up of a Neuronal Ceroid Lipofuscinosis Patient With Mutations in CLN3 and Protracted Disease Course

Åberg, Laura; Lauronen, Leena; Hämäläinen, Janne; Mole, Sara E.; Autti, Taina

doi:10.1016/j.pediatrneurol.2008.10.012

« Previous Next »Pediatric Neurology
Volume 40, Issue 2 , Pages 134-137, February 2009

A 30-year Follow-Up of a Neuronal Ceroid Lipofuscinosis Patient With Mutations in CLN3 and Protracted Disease Course

Laura Åberg, MD, PhD
- Pediatric Neurology–Department of Pediatric and Adolescent Medicine, Helsinki University Central Hospital, University of Helsinki, Finland
- Communications should be addressed to: Dr. Åberg; Hakolahdentie 2 D 46; 00200 Helsinki; Finland.
Leena Lauronen, MD, PhD
- 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
Janne Hämäläinen, MSc
- Helsinki Medical Imaging Center, Helsinki University Central Hospital, University of Helsinki, Finland
Sara E. Mole, PhD
- 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
Taina Autti, MD, PhD
- Helsinki Medical Imaging Center, Helsinki University Central Hospital, University of Helsinki, Finland

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.