Article
Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation.
Journal of neurology - 1 Mar 1996
Andreadou E, Yapijakis C, Paraskevas G P, Stavropoulos P, Karadimas C, Zis V P, Davaki P, Karandreas N, Rentzos M, Tsakanikas C, Vassilopoulos D, Papageorgiou C
Abstract excerpt
Hereditary neuropathy with liability to pressure palsies (HNPP) is a peripheral nerve disorder characterized by autosomal dominant inheritance, recurrent pressure palsies, reduced motor and sensory conduction velocities and sausage-like swellings (tomacula) of myelin sheaths in nerve biopsy. Two young adult patients are reported as index cases of two families in which HNPP was diagnosed. The first patient...
Topics
- Adult
- Genetic Predisposition to Disease
- Humans
- Male
- Paralysis
- Pedigree
- Peripheral Nervous System Diseases
- Pressure
