Pelizaeus-Merzbacher Disease, Cockayne Syndrome and Related Conditions

  • Reinhard L. Friede


Pelizaeus (1885) reported a sibship afflicted with a chronic, debilitating neurologic disorder which had its onset in early infancy and took a protracted course to young or middle adult age. Fourteen members were eventually found to be afflicted in this sibship, and Merzbacher (1910) gave a detailed description of the neuropathologic findings in one. There was hypoplasia of the cerebral and cerebellar white matter with a patchy deficiency of myelin and interspaced sharply delineated islands of myelinated fibers. This pattern is traditionally described as “tigroid”, although it is actually more similar to a leopard skin (Norman et al., 1966). The disease afflicting the Pelizaeus sibship evidently represented a nosologic entity quite different from other known inherited neurologic conditions; yet, much difficulty was encountered later in defining what constitutes “Pelizaeus-Merzbacher disease”. Its etiology and pathogenesis remain obscure, and there was so much variance in the course and morphologic findings for subsequent cases that their definition as an entity or as a loosely related group of diseases remains unclear. Consequently, the pertinent literature is highly controversial.


White Matter Myelin Sheath Retinitis Pigmentosa Myelinated Fiber White Matter Change 
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

© Springer-Verlag Wien 1975

Authors and Affiliations

  • Reinhard L. Friede
    • 1
    • 2
  1. 1.Case Western Reserve UniversityClevelandUSA
  2. 2.University of ZurichSwitzerland

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