Abstract
Hereditary neuralgic amyotrophy (HNA) is an autosomal disease characterized by painful episodes of brachial palsy. The presence of tomacula in some patients suggested that HNA might be genetically related to hereditary neuropathy with liability to pressure palsies (HNPP), caused by point mutations in the PMP22 gene or deletion of the region containing 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 any other gene in the HNPP deleted region. We conclude that HNA and HNPP are distinct genetic entities.
Publication types
-
Case Reports
-
Comparative Study
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adolescent
-
Adult
-
Brachial Plexus Neuritis / classification
-
Brachial Plexus Neuritis / genetics
-
Brachial Plexus Neuritis / physiopathology*
-
Child
-
Chromosomes, Human, Pair 17
-
Female
-
Gene Deletion
-
Genetic Carrier Screening
-
Genetic Linkage
-
Genotype
-
Humans
-
Male
-
Myelin Proteins / genetics*
-
Pedigree
-
Peripheral Nervous System Diseases / classification
-
Peripheral Nervous System Diseases / genetics
-
Peripheral Nervous System Diseases / physiopathology*
-
Point Mutation
-
Polymorphism, Restriction Fragment Length
-
Pressure
Substances
-
Myelin Proteins
-
PMP22 protein, human