Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion

Isabelle Korn-Lubetzki, Zohar Argov, Annick Raas-Rothschild, Itzchak Wirguin, Israel Steiner

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)275-278
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume113
Issue number3
DOIs
StatePublished - 1 Dec 2002
Externally publishedYes

Keywords

  • Guillain-Barré
  • Hereditary neuropathy with liability to pressure palsy
  • Inflammatory demyelinating polyneuropathy
  • Syndrome

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