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Journal of Pediatric Biochemistry 2016; 06(01): 039-045
DOI: 10.1055/s-0036-1582253
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Neuronopathic Gaucher Disease

Simona Sestito
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Francesca Falvo
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Michele Grisolia
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Angela Nicoletti
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Elisa Pascale
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Maria Teresa Moricca
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Sara Esposito
1   Department of Medical and Surgical Sciences, Pediatric Unit, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
,
Vincenzo Salpietro
2   Department of Pediatrics, University of Messina, Messina, Italy
3   Institute of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals, London, United Kingdom
,
Agata Polizzi
4   National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
,
Martino Ruggieri
5   Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, 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

10 December 2015

21 January 2016

Publication Date:
26 April 2016 (online)

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Abstract

Gaucher disease (GD) has been classically divided into three phenotypes primarily according to the absence (type 1 GD or nonneuronopathic GD) or presence and severity (types 2 and 3 GD or neuronopathic GD) of neurological involvement. Despite such distinction, neurological manifestations have been recorded also in patients with type 1 GD: in this latter form, however, such manifestations are different and, in the majority of cases, of much less severity than those associated with types 2 and 3 GD. Significant advances in therapy have been achieved, primarily after the advent of enzyme replacement therapy (ERT). As it occurs in patients with type 1 GD, ERT is able to reverse systemic and extraneurological manifestations of type 3 GD, although evidence suggests that ERT is not able to prevent the progression of neurological involvement in the long term. Thus, it is necessary to better understand the pathophysiological mechanism underlying neurological involvement in GD patients, allowing the development of new therapeutic approaches capable of improving central nervous system manifestations in GD.

Keywords

Gaucher disease - type 1 Gaucher disease - type 2 Gaucher disease - type 3 Gaucher disease - neuronopathic GD - nonneuronopathic GD - lysosomal storage disease
 

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