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 and unaffected individuals from five unrelated families segregating hereditary neuropathy with liability to pressure palsies (HNPP) as an autosomal dominant trait. A molecular lesion at the HNPP locus in chromosome 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 intron of PMP22 gene. Clinical variability between and within families was observed. Susceptibility to minimal traumas was also variable, We mention certain peculiarities such as painless brachial plexus neuropathy, conduction block lasting more than 9 years, slimmer's paralysis as the unique clinical manifestation of the disease, and diagnostic problems in asymptomatic individuals. Their is a genetic and electrophysiological correlation in affected individuals with HNPP.