title: Clinical and electrodiagnostic findings, nerve biopsy and blood group markers in a family with hereditary neuropathy with liability to pressure palsies.
abstract: 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.
authors.affiliation: Department of Neurophysiology, Wagner Jauregg Krankenhaus, Linz, Austria.
authors.forename: F
authors.initials: F
authors.lastname: Leblhuber
authors.forename: F
authors.initials: F
authors.lastname: Reisecker
authors.forename: J
authors.initials: J
authors.lastname: Willeit
authors.forename: E
authors.initials: E
authors.lastname: Windhager
authors.forename: A
authors.initials: A
authors.lastname: Witzmann
authors.forename: W R
authors.initials: WR
authors.lastname: Mayr
mesh_terms: D000293:Adolescent; D001706:Biopsy; D001789:Blood Group Antigens / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D004375:Duffy Blood-Group System / Q000235:genetics; D004576:Electromyography; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D006181:H-Reflex / Q000235:genetics / Q000502:physiology; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000502:physiology; D009431:Neural Conduction / Q000235:genetics / Q000502:physiology; D009460:Neurologic Examination; D010243:Paralysis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010525:Peripheral Nerves / Q000503:physiopathology; D010733:Phosphoglucomutase / Q000235:genetics; D011312:Pressure; D011930:Reaction Time / Q000235:genetics / Q000502:physiology; D012204:Rh-Hr Blood-Group System / Q000235:genetics; D013497:Sural Nerve / Q000473:pathology
chemical_list: D001789:Blood Group Antigens; D004375:Duffy Blood-Group System; D005819:Genetic Markers; D012204:Rh-Hr Blood-Group System; D010733:Phosphoglucomutase