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Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q

From the Divisions of Neurology (Drs. Pellegrino and Chance) and Human Genetics and Molecular Biology (Dr. Pellegrino), The Children's Hospital of Philadelphia and Departments of Pediatrics (Drs. Pellegrino and Chance), Biostatistics and Epidemiology (Dr. Rebbeck) and Neurology (Drs. Brown and Chance), University of Pennsylvania, School of Medicine, Philadelphia, PA; and the Department of Neurology and Division of Medical Genetics, Department of Medicine, University of Washington, School of Medicine and Veterans Administration Medical Center (Dr. Bird), Seattle, WA.
Supported by the Muscular Dystrophy Association (P.F.C.), March of Dimes Birth Defects Foundation (P.F.C.), National Institutes of Health (P.F.C., T.R.R., T.D.B.), Veterans Affairs Research Funds (T.D.B.), and the Myer S. Shandelman Trust (P.F.C.).
Received September 22, 1995. Accepted in final form October 6, 1995.
Address correspondence and reprint requests to Dr. Phillip F. Chance, Neurogenetics Laboratory, Division of Neurology Research, 516 Abramson Pediatric Research Center, The Children's Hospital of Philadelphia. 34th and Civic Center Blvd., Philadelphia, PA, 19104.

Hereditary neuralgic amyotrophy with predilection for the brachial plexus (HNA) is an autosomal dominant disorder associated with recurrent, episodic, painful brachial neuropathies.Mildly dysmorphic facial features, including hypotelorism, long nasal bridge, and upslanting palpebral fissures, are present in affected persons in some pedigrees with HNA. To determine the chromsomal location of the HNA gene, we carried out genetic linkage studies with polymerase chain reaction-based DNA markers in two large pedigrees. Linkage to markers from the distal long arm of chromosome 17 was established.

NEUROLOGY 1996;46: 1128-1132

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