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Pelizaeus-Merzbacher disease

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A form of sudanophilic leukodystrophy, or leukoencephalopathia, that usually affects only males. It is a chronic disease of the nervous system with onset early in life, characterized by rotary nystagmus, ataxia, intention tremor, spastisity, and dementia. It begins in infancy, is slowly progressive and may persist for decades. Inheritance is X-linked recessive. There is also a second, congenital, recessively inherited form marked by late onset with a faster course, and a dominant form with onset in adulthood, marked by photosensitivity of the skin, dwarfism, cerebellar ataxia, corticospinal signs, cataracts, retinitis pigmentosa, and deafness. The latter two forms are very rare.

The patients described by Ludwig Merzbacher in his paper from 1910 belonged to the same family which previously was reported by Pelizaeus.

In the German literature the single eponym Merzbacher’s disease has often been used.

We thank Filip Marcinowski for information submitted.


  • F. Pelizaeus:
    Über eine eigenthümliche Form spastischer Lähmung mit Cerebralerscheinungen auf hereditärer Grundlage (Multiple Sklerose).
    Archiv für Psychiatrie und Nervenkrankheiten, Berlin, 1885, 16: 698-710.
  • L. Merzbacher:
    Eine eigenartige familiärhereditäre Erkrankungform (Aplasia axialis extracorticalis congenita).
    Zeitschrift für die gesamte Neurologie und Psychiatrie, 1910, 3: 1-138. Weitere Mitteilungen über eine einzigartige hereditär-familiäre Erkrankung des Zentralnervensystems.
    Medizinische Klinik, München, 1908, 4: 1952-1955.
  • W. Spielmeyer:
    Der anatomische Befund bei einem zweiten Fall von Pelizaeus-Merzbacherscher Krankheit.
    Zeitschrift für die gesamte Neurologie und Psychiatrie, 1923, 32: 203.

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