HEREDITARY NEURALGIC AMYOTROPHY AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - 2 DISTINCT CLINICAL, ELECTROPHYSIOLOGIC, ANDGENETIC ENTITIES

Hereditary neuralgic amyotrophy (HNA) is an autosomal disease characte rized by painful episodes of brachial palsy. The presence of tomacula in some patients suggested that HNA might be genetically related to he reditary neuropathy with liability to pressure palsies (HNPP), caused by point mutations in the PMP22 gene or deletion of the region contain ing this gene. In a clinical, electrophysiologic, and molecular study of two families with HNA, we show that the PMP22 gene is not deleted, duplicated, or mutated in HNA and that the disease is not linked to an y other gene in the HNPP deleted region. We conclude that HNA and HNPP are distinct genetic entities.