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Sjogren-Larsson Syndrome

  • Lívia Almeida Dutra
  • Pedro Braga-Neto
  • José Luiz Pedroso
  • Orlando Graziani Povoas Barsottini
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 724)

Abstract

Sjogren-Larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. The involvement of brain and skin is justified by a mutation in FALDH gene that affects the metabolism of fatty acids and leads to abnormal accumulation of lipids. The normal formation of multilamellar membranes in the stratum corneum and myelin is impaired. The aim of this chapter is to review the classical manifestation of the disease and its differential diagnosis.

Keywords

Neurodegenerative Disease Peripheral Neuropathy Stratum Corneum Middle East Retinitis Pigmentosa 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Landes Bioscience and Springer Science+Business Media 2012

Authors and Affiliations

  • Lívia Almeida Dutra
    • 1
  • Pedro Braga-Neto
    • 1
  • José Luiz Pedroso
    • 1
  • Orlando Graziani Povoas Barsottini
    • 1
  1. 1.Department of Neurology and NeurosurgeryFederal University of São PauloSão PauloBrazil

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