Neuronal ceroid lipofuscinoses

Dragos A. Nita, Sara E. Mole, Berge A. Minassian

Research output: Contribution to journalReview article

37 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)S73-S88
JournalEpileptic Disorders
Volume18
DOIs
Publication statusPublished - Jan 1 2016

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Keywords

  • Batten
  • Haltia-Santavuori
  • Janský-Bielschowsky
  • progressive myoclonus epilepsies
  • Spielmeyer

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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