Hereditary Neuropathy with Liability to Pressure Palsy: The Clinical and Electrophysiological Features of Four Families
- Resource Type
- article
- Authors
- Ayşe Oytun Bayrak; Esra Battaloğlu; Handan Akar; İbrahim Barış; Musa Kazım Onar
- Source
- Türk Nöroloji Dergisi, Vol 16, Iss 4, Pp 193-198 (2010)
- Subject
- Neuropathy
hereditary
liability to pressure palsies
electrophysiology
Medicine
Neurology. Diseases of the nervous system
RC346-429
- Language
- English
- ISSN
- 1301-062X
1309-2545
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