Classification and natural history of the neuronal ceroid lipofuscinoses.
J Child Neurol
; 28(9): 1101-5, 2013 Sep.
Article
en En
| MEDLINE
| ID: mdl-23838030
ABSTRACT
The neuronal ceroid lipofuscinoses represent a group of disorders characterized by neurodegeneration and intracellular accumulation of an auto-fluorescent lipopigment (ceroid lipofuscin). Together, they represent the most prevalent class of childhood neurodegenerative disease. The neuronal ceroid lipofuscinoses encompass several distinct biological entities that vary in age of onset, specific neurologic phenotype, and rate of progression. In this review, we describe 9 major forms and present a classification scheme. Understanding the age of onset, clinical features, and natural history can inform rational diagnostics. Better knowledge of the natural histories of these disorders is necessary to shed light on the underlying pathobiology and to develop new therapeutics.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Lipofuscinosis Ceroideas Neuronales
Tipo de estudio:
Etiology_studies
Límite:
Humans
Idioma:
En
Revista:
J Child Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Estados Unidos