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Refsum’s Disease

  • Jacob Valk
  • Marjo S. van der Knaap

Abstract

Refsum’s disease (RD), also called heredopathia atactica polyneuritiformis, is a rare disorder with an autosomal recessive mode of inheritance, characterized by accumulation of phytanic acid. The age at onset is known to vary from early childhood to the fifth decade. The onset is insidious and may be difficult to determine precisely. Symptoms sometimes appear to be precipitated by infections. Dramatic exacerbations and remissions of symptoms may occur spontaneously, without obvious antecedent cause.

Keywords

Phytanic Acid Dentate Nucleus Zellweger Syndrome Phytanic Acid Content Autosomal Recessive Mode 
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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References

Classic Refsum’s Disease

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Infantile Refsum’s Disease

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Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • Jacob Valk
    • 1
  • Marjo S. van der Knaap
    • 2
  1. 1.Department of Diagnostic Radiology and NeuroradiologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Child NeurologyAcademic HospitalUtrechtThe Netherlands

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