USE OF COSH1 PROBE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - A RELIABLE GENETIC TEST FOR DEMONSTRATION OF IDENTICAL SIZE OF 17P11.2 DELETION IN UNRELATED PATIENTS

We describe pulsed-field gel electrophoresis (PFGE) analysis of 10 unr elated Italian families and seven isolated cases with hereditary neuro pathy with liability to pressure palsies (HNPP). Our sample includes p atients with different clinical features, varying from classical liabi lity to pressure palsies to ingravescent polyneuropathy. The frequency and the uniformity in size of the 17p11.2 deletion was evaluated by u sing cosH1 probe from the Charcot-Marie-Tooth neuropathy type 1A (CMT1 A)-REP region. The presence of the deletion was demonstrated in all ou r patients; furthermore, the deletion was of identical size, although our patients had different clinical features. Molecular analysis of th e 17p11.2 region by PFGE method proved to be a reliable and non-invasi ve method of diagnosis in HNPP cases both familial and isolated.