Neuronal ceroid lipofuscinoses

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 bi...

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Published inEpileptic disorders Vol. 18; no. s2; pp. S73 - S88
Main Authors Nita, Dragos A., Mole, Sara E., Minassian, Berge A.
Format Journal Article
LanguageEnglish
Published France 01.09.2016
Subjects
Batten
Haltia‐Santavuori
Humans
Janský‐Bielschowsky
Neuronal Ceroid-Lipofuscinoses - diagnosis
Neuronal Ceroid-Lipofuscinoses - genetics
Neuronal Ceroid-Lipofuscinoses - metabolism
Neuronal Ceroid-Lipofuscinoses - therapy
progressive myoclonus epilepsies
Spielmeyer
Janský-Bielschowsky
Haltia-Santavuori
Batten
progressive myoclonus epilepsies
Spielmeyer
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Summary: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.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
content type line 23
ObjectType-Review-1
ISSN:1294-9361
1950-6945
DOI:10.1684/epd.2016.0844