Hereditary Neuropathy with Liability to Pressure Palsy:  The Clinical and Electrophysiological Features of Four Families**

Ayşe Oytun Bayrak; Esra Battaloğlu; Handan Akar; İbrahim Barış; Musa Kazım Onar

Ayşe Oytun Bayrak¹, Esra Battaloğlu², Handan Akar³, İbrahim Barış², Musa Kazım Onar¹

¹Department Of Neurology, Faculty Of Medicine, University Of Ondokuz Mayıs, Samsun, Turkey
²Department of Molecular Biology and Genetics, University of Bogazici, Istanbul, Turkey
³Clinic Of Neurology, Samsun Mehmet Aydin Training And Research Hospital, Samsun, Turkey

Keywords: Neuropathy, hereditary, liability to pressure palsies, electrophysiology.

Abstract

Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by acute, painless and recurrent mononeuropathies that are secondary to minor trauma or compression. Diagnosis is often overlooked when detailed examinations are not performed. We discuss the features of our four HNPP patients and their close relatives in order to emphasize the importance of clinical and electrophysiological findings in the diagnosis of HNPP. Four patients and three members of the family underwent genetic testing and HBDN deletion was shown in all.