A rare genetic disorder in the differential diagnosis of the entrapment neuropathies: Hereditary neuropathy with liability to pressure palsies


Koc F., Guzel R. , Benlidayi I. , Yerdelen D., Guzel I., Sarica Y.

JCR-JOURNAL OF CLINICAL RHEUMATOLOGY, cilt.12, ss.78-82, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 12 Konu: 2
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1097/01.rhu.0000208634.26253.17
  • Dergi Adı: JCR-JOURNAL OF CLINICAL RHEUMATOLOGY
  • Sayfa Sayısı: ss.78-82

Özet

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant, slowly progressive neuromuscular disorder, which is characterized by recurrent acute peripheral nerve palsies. Electrophysiological studies show decreased motor and sensory conduction velocities in both clinically affected and unaffected nerves. Focal thickening of myelin sheath with sausage-like formation, also called tomacula, is seen in nerve biopsies. In genetic studies, 1.5-Mb deletion on chromosome 17p 11.2 is detected in approximately 85% of HNPP cases and point mutations are determined in some cases.