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Clinical and electrodiagnostic findings, nerve biopsy and blood group markers in a family with hereditary neuropathy with liability to pressure palsies
Author(s) -
Leblhuber F.,
Reisecker F.,
Willet J.,
Windhager E.,
Witzmann A.,
Mayr W.R.
Publication year - 1991
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1991.tb04670.x
Subject(s) - nerve biopsy , medicine , motor nerve , biopsy , nerve conduction , electromyography , hereditary motor and sensory neuropathy , sural nerve , nerve conduction velocity , genetic linkage , blood pressure , muscle biopsy , pathology , peripheral neuropathy , surgery , anatomy , disease , genetics , gene , endocrinology , biology , physical medicine and rehabilitation , diabetes mellitus
Clinical, electrophysiologic and biopsy findings as well as studies of blood group markers in a family with hereditary neuropathy with liability to pressure palsies (HNPP) are reported. There was an autosomal dominant trait without genetic linkage between the HNPP gene and blood group markers controlled by chromosome 1. Reduced motor and sensory nerve conduction velocity was found in clinically affected and unaffected nerves. Characteristic morphological changes in sural nerve biopsy including tomaculous swelling were present.