Hereditary Neuropathy with Liability to Pressure Palsy: The Clinical and Electrophysiological Features of Four Families**
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 th...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2010-12-01
|
| Series: | Türk Nöroloji Dergisi |
| Subjects: | |
| Online Access: | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-49368 |
| Summary: | 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 |
|---|---|
| ISSN: | 1301-062X 1309-2545 |