Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation

Deutsche Zeitschrift für Nervenheilkunde - Tập 243 - Trang 225-230 - 1996
Elisabeth Andreadou1, Christos Yapijakis1, George P. Paraskevas1, Panagiotis Stavropoulos1, Charalambos Karadimas1, Vassilios Panagiotis Zis1, Panagiota Davaki1, Nicos Karandreas1, Michael Rentzos1, Constantinos Tsakanikas1, Demetrios Vassilopoulos1, Constantinos Papageorgiou1
1Eginition Hospital, Department of Neurology, University of Athens, Athens, Greece

Tóm tắt

Hereditary neuropathy with liability to pressure palsies (HNPP) is a peripheral nerve disorder characterized by autosomal dominant inheritance, recurrent pressure palsies, reduced motor and sensory conduction velocities and sausage-like swellings (tomacula) of myelin sheaths in nerve biopsy. Two young adult patients are reported as index cases of two families in which HNPP was diagnosed. The first patient presented with recurrent pressure palsies, whereas the second suffered from fasciculations and myokymias in his right hand, with difficulty in writing, and upper and lower limb paraesthesias of 3 years' duration. Electrodiagnostic studies revealed slowing of conduction primarily in common sites of compression in both patients. Sural nerve biopsy revealed the characteristic tomaculous swellings in both patients. DNA analysis showed that both patients have a deletion in chromosome 17p11.2 which is found in the majority of HNPP cases. In light of the common molecular defect, the different clinical symptomatology of the two patients is discussed.

Tài liệu tham khảo

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