DELETION IN THE CMT1A LOCUS ON CHROMOSOME 17P11.2 IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disease of peripheral nerves, characterized by recu rrent focal neuropathies often with an underlying asymptomatic polyneu ropathy. We report the clinical, electrophysiological, and histopathol ogical findings in three families with HNPP and confirm the presence o f a deletion on chromosome 17p11.2, including all the markers known to be duplicated in Charcot-Marie-Tooth disease type 1A. This deletion a ppears to be the underlying molecular deficit in this disease and prov ides additional evidence for the importance of this locus for peripher al nerve function.