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Review
. 2016 Sep 1;18(S2):73-88.
doi: 10.1684/epd.2016.0844.

Neuronal ceroid lipofuscinoses

Dragos A Nita  1 , Sara E Mole  2 , Berge A Minassian  1
Affiliations
Review

Neuronal ceroid lipofuscinoses

Dragos A Nita et al. Epileptic Disord. .

Abstract

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.

Keywords: Batten; Haltia-Santavuori; Janský-Bielschowsky; Spielmeyer; progressive myoclonus epilepsies.

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