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

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 progres...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric neurology 2009-02, Vol.40 (2), p.134-137
Main Authors: Åberg, Laura, MD, PhD, Lauronen, Leena, MD, PhD, Hämäläinen, Janne, MSc, Mole, Sara E., PhD, Autti, Taina, MD, PhD
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Cerebellar Diseases
Cognition Disorders
Deafness
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Disease Progression
Epilepsy
Follow-Up Studies
Humans
Magnetic Resonance Imaging
Magnetoencephalography
Male
Medical sciences
Membrane Glycoproteins - genetics
Molecular Chaperones - genetics
Mutation, Missense
Neurology
Neuronal Ceroid-Lipofuscinoses - genetics
Neuronal Ceroid-Lipofuscinoses - pathology
Neuronal Ceroid-Lipofuscinoses - physiopathology
Pediatrics
Polyneuropathies
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2008.10.012