Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.
Autor(es): Korn-Lubetzki Isabelle,Argov Zohar,Raas-Rothschild Annick,Wirguin Itzchak,Steiner Israel
Resumo: Hereditary neuropathy with liability to pressure palsies (HNPP), classically presenting as recurrent focal neuropathies precipitated by trauma or compression, is an autosomal dominant neuropathy due to a deletion at chromosomal locus 17p12. Inflammatory demyelinating polyneuropathy (IDP), a putative autoimmune disorder presenting in an acute (AIDP) or a chronic form (CIDP), has been rarely reported as familial. We present a father and two daughters of Jewish Kurdish origin who developed IDP within 10 years. The unusual familial history led us to reevaluate the diagnosis of IDP, and suggested an autosomal dominant pedigree. DNA analysis identified the deletion typical of HNPP on chromosome 17. Screening for the HNPP deletion in patients with atypical, recurrent, or familial IDP might be warranted.
Imprenta: American Journal of Medical Genetics, v. 113, n. 3, p. 275-278, 2002
Identificador do objeto digital: 10.1002/ajmg.10725
Descritores: Guillain-Barre Syndrome - Cell ; Guillain-Barre Syndrome - DNA ; Guillain-Barre Syndrome - Pathogenesis
Data de publicação: 2002
