title: Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed.
abstract: In 1947, the Dutch neurologist De Jong published the first family with, what later would be called, hereditary neuropathy with liability to pressure palsies (HNPP). We recently found a new case from this family and were able to confirm the diagnosis by DNA analysis.
authors.affiliation: Department of Neurology, Atrium Medical Centre, PO Box 4446, 6401 CX Heerlen, The Netherlands. p.koehler@atriummc.nl
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Koehler
authors.forename: Frank
authors.initials: F
authors.lastname: Baas
mesh_terms: D000293:Adolescent; D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics / Q000266:history*; D002886:Chromosomes, Human, Pair 17; D017353:Gene Deletion; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics / Q000266:history*; D049673:History, 20th Century; D006801:Humans; D006987:Hypesthesia / Q000209:etiology; D008297:Male; D018908:Muscle Weakness / Q000209:etiology; D009185:Myelin Proteins / Q000235:genetics; D009426:Netherlands; D009431:Neural Conduction / Q000235:genetics; D010375:Pedigree
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human