Journal of Neurology

, Volume 228, Issue 2, pp 73–95 | Cite as

Hereditary neuropathy with liability to pressure palsies

Report of two families and review of the literature
  • Claus Meier
  • Carl Moll
Survey of Progress

Summary

Clinical, neurophysiological and pathological investigations were carried out in 11 affected members of 2 families with hereditary neuropathy with liability to pressure palsies (HNPP). The observations were related to findings in 261 cases of 47 families published in the literature. It was concluded that HNPP is a nosological entity characterized by the following diagnostic criteria: (1) an autosomal dominant inheritance; (2) the clinical presentation of a recurrent mononeuropathy simplex or multiplex, frequently related to an inadequate trauma to peripheral nerves; (3) a significant slowing of motor and sensory conduction velocity in clinically affected, but also in clinically unaffected nerves; (4) characteristic morphological findings in sural nerve biopsy featuring “tomaculous” swellings of myelin sheaths, transnodal myelination and segmental demyelination. The pathogenesis of HNPP is not clear. Hypothetical explanations of the pathogenesis of HNPP are discussed.

Key words

Hereditary neuropathy Pressure palsies Schwann cell dysfunction Myelin abnormalities 

Zusammenfassung

Elf betroffene Mitglieder von zwei Familien mit hereditärer Neuropathie mit Neigung zu Druckläsionen (Hereditary neuropathy with liability to pressure palsies, HNPP) wurden klinisch, elektrophysiologisch und nervenbioptisch untersucht. Die eigenen Beobachtungen wurden mit den Befunden bei 261 Fällen von 47 Familien aus der Literatur verglichen. Basierend auf den eigenen Befunden und den Ergebnissen der Literaturübersicht ist die hereditäre Neuropathie mit Neigung zu Druckläsionen durch folgende diagnostische Merkmale eindeutig als nosologische Entität charakterisiert: 1. einen autosomal dominanten Erbgang, 2. die klinische Präsentation als rekurrierende Mononeuropathia simplex oder multiplex, häufig als Folge eines inadäquaten mechanischen Traumas, 3. eine eindeutige Verlangsamung der motorischen und sensiblen Nervenleitgeschwindigkeit bei klinisch betroffenen, aber auch bei klinisch nicht betroffenen Nerven, 4. durch typische morphologische Befunde in der Suralisbiopsie, welche tomakulöse (wurstförmige) Anschwellungen der Markscheiden, transnodale Myelinisierung und segmentale Demyelinisierung zeigen. Die Pathogenese dieser Neuropathie ist nicht geklärt. Hypothetische Deutungen der formalen und kausalen Genese der pathologischen Veränderungen werden diskutiert.

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Copyright information

© Springer-Verlag 1982

Authors and Affiliations

  • Claus Meier
    • 1
  • Carl Moll
    • 1
  1. 1.Department of NeurologyUniversity of Berne, InselspitalBerneSwitzerland

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