IP: Dra. Carmen Espinós Armero

Resumen del proyecto: BACKGROUND. Inherited, focal peripheral neuropathies that are recurrent and from which affected individuals make full or partial degrees of recovery are unusual. The most prominent disorders inherited as autosomal dominant traits that fall into this category are: (i) Hereditary neuropathy with liability to pressure palsies (HNPP), a recurrent brachial plexus polyneuropathy with periodic episodes of numbness, muscular weakness, and atrophy, caused by deletion of the PMP22 gene or by point mutations in this gene. (2) Hereditary neuralgic amyotrophy (HNA), an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, due to mutations in the SEPT9 gene. (iii) Primary erythromelalgia caused by mutations in the SCN9A gene. Its clinical hallmarks are episodes of burning pain, skin redness, and swelling of the extremities, ears and face.
AIMS. (1) Genome-wide mapping in two large families with similar clinical pictures. (2) Search of positional and function al candidate genes to identify disease-causing gene/genes involved in these two families.

Entidad financiadora: Ministerio de Ciencia e Innovación