Hereditary neuropathy with liability to pressure palsy: The clinical and electrophysiological features of four families Herediter Basınca Duyarlı Nöropati: Dört Ailenin Klinik ve Elektrofizyolojik Özellikleri

Bayrak A. O., Battaloǧlu E., Akar H., Bariş I., Onar M. K.

Turk Noroloji Dergisi, cilt.16, sa.4, ss.193-198, 2010 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 4
  • Basım Tarihi: 2010
  • Dergi Adı: Turk Noroloji Dergisi
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.193-198
  • Anahtar Kelimeler: Electrophysiology, Hereditary, Liability to pressure palsies, Neuropathy
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

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.