CLINICAL, GENETIC AND ELECTROPHYSIOLOGIC CORRELATION IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES WITH INVOLVEMENT OF PMP22 GENE AT CHROMOSOME 17P11.2

Clinical and electrophysiological studies were performed in affected a nd unaffected individuals from five unrelated families segregating her editary neuropathy with liability to pressure palsies (HNPP) as an aut osomal dominant trait. A molecular lesion at the HNPP locus in chromos ome 17p11.2 was previously confirmed in an families, In four families the HNPP 1.5Mb was demonstrated. In the fifth family the mutation ws a point mutation involving the 5' door splicing site af the first intro n of PMP22 gene. Clinical variability between and within families was observed. Susceptibility to minimal traumas was also variable, We ment ion certain peculiarities such as painless brachial plexus neuropathy, conduction block lasting more than 9 years, slimmer's paralysis as th e unique clinical manifestation of the disease, and diagnostic problem s in asymptomatic individuals. Their is a genetic and electrophysiolog ical correlation in affected individuals with HNPP.