Neuronal ceroid lïpofuscinoses: A review

N. Nardocci, F. Cardona

Research output: Contribution to journalArticle

Abstract

Neuronal ceroid lipofuscinoses (NCLs) are among the most common neurodegenerative diseases in childhood but rarely present in adulthood. The main symptoms are psychomotor deterioration, visual failure, epilepsy and motor disturbances. The NCLs are morphologically characterized by the accumulation of lipopigments within numerous cell types and loss of neurons. Pathogenesis is unknown. The current clinical classification recognizes six classic types of NCL and several atypical forms. Electrophysiological and neuroradiological findings may be of diagnostic significance, but disease recognition rests on the demonstration of a typical ultrastructural pattern. Genetic studies have demonstrated that several different genetic loci are involved in the pathogenesis of NCL, but the molecular mechanisms underlying neuronal death and lipopigment accumulation are not understood.

Original languageEnglish
Pages (from-to)271-276
Number of pages6
JournalNeurological Sciences
Volume19
Issue number5
Publication statusPublished - 1998

Keywords

  • Classification
  • Clinical features
  • Diagnosis
  • Genetics
  • Neuronal ceroid lipofuscinosis

ASJC Scopus subject areas

  • Dermatology
  • Clinical Neurology
  • Psychiatry and Mental health
  • Neuroscience(all)

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