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Current Neurology and Neuroscience Reports

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01-08-2013 | Genetics (V Bonifati, Section Editor)

Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

Authors: Susan L. Cotman, Amel Karaa, John F. Staropoli, Katherine B. Sims

Published in: Current Neurology and Neuroscience Reports | Issue 8/2013

Abstract

Neuronal ceroid lipofuscinosis (NCL), first clinically described in 1826 and pathologically defined in the 1960s, refers to a group of disorders mostly diagnosed in the childhood years that involve the accumulation of lysosomal storage material with characteristic ultrastructure and prominent neurodegenerative features including vision loss, seizures, motor and cognitive function deterioration, and often times, psychiatric disturbances. All NCL disorders evidence early morbidity and treatment options are limited to symptomatic and palliative care. While distinct genetic forms of NCL have long been recognized, recent genetic advances are considerably widening the NCL genotypic and phenotypic spectrum, highlighting significant overlap with other neurodegenerative diseases. This review will discuss these recent advances and the expanded potential for increased awareness and new research that will ultimately lead to effective treatments for NCL and related disorders.

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Title: Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum
Authors: Susan L. Cotman
Amel Karaa
John F. Staropoli
Katherine B. Sims
Publication date: 01-08-2013
Publisher: Springer US
Published in: Current Neurology and Neuroscience Reports / Issue 8/2013
Print ISSN: 1528-4042
Electronic ISSN: 1534-6293
DOI: https://doi.org/10.1007/s11910-013-0366-z

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Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

Abstract

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Abstract

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