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Title: A novel mutation af CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy
Austin Authors: Licchetta, Laura;Bisulli, Francesca;Fietz, M;Valentino, ML;Morbin, Michela;Mostacci, B;Oliver, Karen L;Berkovic, Samuel F ;Tinuper, Paolo
Affiliation: Austin Health, Heidelberg, Victoria, Australia
IRCCS Istituto delle Scienze Neurologiche of Bologna, Bologna, Italy
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy
Department of Biochemical Genetics, SA Pathology, Adelaide, South Australia, Australia
Neuropathology & Neurology V - IRCCS Foundation "Istituto Neurologico Carlo Besta", Milan, Italy
Epilepsy Research Centre, Department of Medicine, the University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
Issue Date: Oct-2015
Date: 2015-09-07
Publication information: European Journal of Medical Genetics 2015; 58(10): 540-544
Abstract: Juvenile neuronal-ceroid-lipofuscinosis (JNCL) is a lysosomal storage disease caused by mutations in CLN3. The most frequent mutation is a 1.02-kb deletion that, when homozygous, causes the classical clinical presentation. Patients harboring mutations different than the major deletion show a marked clinical heterogeneity, including protracted disease course with possible involvement of extraneuronal tissues. Cardiac involvement is relatively rare in JNCL and it is usually due to myocardial storage of ceroid-lipofuscinin. Only recently, histopathological findings of autophagic vacuolar myopathy (AVM) were detected in JNCL patients with severe cardiomyopathy. We describe a 35-year-old male showing a delayed-classic JNCL with visual loss in childhood and neurological manifestations only appearing in adult life. He had an unusual CLN3 genotype with an unreported deletion (p.Ala349_Leu350del) and the known p.His315Glnfs*67 mutation. Autophagic vacuolar myopathy was shown by muscle biopsy. At clinical follow-up, moderately increased CPK levels were detected whereas periodic cardiac assessments have been normal to date. Adult neurologists should be aware of protracted JNCL as cause of progressive neurological decline in adults. The occurrence of autophagic vacuolar myopathy necessitates periodic cardiac surveillance, which is not usually an issue in classic JNCL due to early neurological death.
DOI: 10.1016/j.ejmg.2015.09.002
ORCID: 0000-0003-4580-841X
Journal: European Journal of Medical Genetics
PubMed URL:
Type: Journal Article
Subjects: Juvenile neuronal ceroid lipofuscinosis (JNCL)
Autophagic vacuolar myopathy
Delayed-classic JNCL
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