Document Detail

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.
MedLine Citation:
PMID:  23775425     Owner:  NLM     Status:  In-Data-Review    
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.
Susan L Cotman; Amel Karaa; John F Staropoli; Katherine B Sims
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Current neurology and neuroscience reports     Volume:  13     ISSN:  1534-6293     ISO Abbreviation:  Curr Neurol Neurosci Rep     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-06-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100931790     Medline TA:  Curr Neurol Neurosci Rep     Country:  United States    
Other Details:
Languages:  eng     Pagination:  366     Citation Subset:  IM    
Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, 185 Cambridge St, Boston, MA, 02114, USA,
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