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Lipofuscinosis neuronal ceroidea - Overview

Nombres alternativos

Lipofuscinosis; Enfermedad de Batten; enfermedad de Jansky-Bielschowsky; Enfermedad de Kufs; Enfermedad de Spielmeyer-Vogt

Definición:

Es un raro grupo de trastornos hereditarios de las neuronas.

Existen tres tipos principales:

  • Adulta (enfermedad de Kufs o Parry)
  • Juvenil (enfermedad de Batten)
  • Infantil tardía (enfermedad de Janski-Bielschowsky)

Causas:

La lipofuscinosis neuronal ceroidea (NCLS, por sus siglas en inglés) es un tipo de trastorno neurodegenerativo que involucra una acumulación de un material anormal llamado lipofuscina en el cerebro. La evidencia sugiere que este trastorno es causado por problemas con la capacidad del cerebro para eliminar y reciclar proteínas.

Las lipofuscinosis se heredan como rasgos autosómicos recesivos. Esto significa que si ambos padres son portadores del rasgo, cada hijo tiene:

  • Una posibilidad de uno entre cuatro de tener la enfermedad
  • Una posibilidad de dos entre cuatro de no tener la enfermedad pero portar el rasgo
  • Una posibilidad de uno entre cuatro de no tener la enfermedad y tampoco ser portador
  • Reviewed last on: 10/14/2009
  • Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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