Journal of Pediatric Biochemistry 2016; 06(01): 060-065
DOI: 10.1055/s-0036-1582222
Review Article
Georg Thieme Verlag KG Stuttgart · New York

The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview

Michele Grisolia
1  Department of Medical and Surgical Sciences, Pediatric Unit, University Magna Graecia of Catanzaro, Catanzaro, Italy
,
Simona Sestito
1  Department of Medical and Surgical Sciences, Pediatric Unit, University Magna Graecia of Catanzaro, Catanzaro, Italy
,
Ferdinando Ceravolo
1  Department of Medical and Surgical Sciences, Pediatric Unit, University Magna Graecia of Catanzaro, Catanzaro, Italy
,
Federica Invernizzi
2  Unit of Molecular Neurogenetics, Institute of Neurology Foundation Carlo Besta IRCCS, Milan, Italy
,
Vincenzo Salpietro
3  Department of Pediatrics, University of Messina, Messina, Italy
4  Institute of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals, London, United Kingdom
,
Agata Polizzi
5  National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
,
Martino Ruggieri
6  Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Barbara Garavaglia
2  Unit of Molecular Neurogenetics, Institute of Neurology Foundation Carlo Besta IRCCS, Milan, Italy
,
Daniela Concolino
1  Department of Medical and Surgical Sciences, Pediatric Unit, University Magna Graecia of Catanzaro, Catanzaro, Italy
› Author Affiliations
Further Information

Publication History

09 December 2015

18 January 2016

Publication Date:
26 April 2016 (online)

Abstract

The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of inherited, progressive neurodegenerative diseases. Manifestations may begin between the neonatal period and young adulthood, depending on the various subtypes. The different phenotypes are similar and include visual loss, seizures, loss of motor and cognitive function, and early death. At autopsy, there is massive neuronal loss with characteristic storage in the remaining neurons. Neurons appear to die because of increased rates of apoptosis and altered autophagy as occurs in lysosomal storage diseases. A total of 13 neuronal ceroid lipofuscinoses (CLN) genetic forms have been identified so far (CLN type 1–14). In the present review, we propose a classification scheme of the major forms and report the case of a familial recurrence of NCL type 10, with a mutation in the CLN10 gene coding for the cathepsin D protein.