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Neuronal ceroid lipofuscinoses: a review

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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.

Sommario

Le ceroido lipofuscinosi neuronali (NCL) sono tra le encefalopatie progressive più freguenti nell'infanzia ed interessano, seppure più raramente, l'adulto. Clinicamente sono caratterizzate da demenza, deficit visivo, epilessia e disturbi motori. Gli aspetti patologici specifici sono rappresentati da degenerazione neuronale ed accumulo lisosomiale di lipopigmento in differenti tipi cellulari. Il difetto biochimico della malattia non e noto. La classificazione delle NCL, basata su criteri clinici, distingue sei forme classiche ed altre forme atipiche. L'elettrofisiologia e la neuroradiologia sono di importante ausilio diagnostico, ma la diagnosi si fonda sull'identificazione dell'accumulo di lipopigmento the presenta pattern ultrastrutturali specifici. Differenti difetti genetici sono stati dimostrati in diverse forme cliniche, ma il meccanismo patogenetico molecolare rimane ancora da chiarire.

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Authors and Affiliations

  1. Department of Child Neurology, National Neurological Institute “C. Besta”, Via Celoria 11, I-20133, Milano, Italy

    N. Nardocci

  2. Department of Child Neuropsychiatry, University of Rome La Sapienza, Roma, Italy

    F. Cardona

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  1. N. Nardocci
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  2. F. Cardona
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Nardocci, N., Cardona, F. Neuronal ceroid lipofuscinoses: a review. Ital J Neuro Sci 19, 271–276 (1998). https://doi.org/10.1007/BF00713852

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