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Neuronal ceroid lipofuscinoses
Author(s) -
Nita Dragos A.,
Mole Sara E.,
Minassian Berge A.
Publication year - 2016
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2016.0844
Subject(s) - neuroscience , neuronal ceroid lipofuscinosis , epilepsy , atrophy , pathophysiology , psychology , progressive myoclonus epilepsy , medicine , pathology , disease
The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL result from the excessive accumulation of neuronal and extraneuronal lipopigments, despite having diverse underlying biochemical aetiologies. Here we review the clinical presentation, pathophysiology and genetics of these conditions as well as the approach to diagnosis and management.