TY - JOUR
T1 - Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion
AU - Korn-Lubetzki, Isabelle
AU - Argov, Zohar
AU - Raas-Rothschild, Annick
AU - Wirguin, Itzchak
AU - Steiner, Israel
PY - 2002/12/1
Y1 - 2002/12/1
N2 - 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.
AB - 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.
KW - Guillain-Barré
KW - Hereditary neuropathy with liability to pressure palsy
KW - Inflammatory demyelinating polyneuropathy
KW - Syndrome
UR - http://www.scopus.com/inward/record.url?scp=0036888850&partnerID=8YFLogxK
U2 - 10.1002/ajmg.10725
DO - 10.1002/ajmg.10725
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 12439896
AN - SCOPUS:0036888850
SN - 0148-7299
VL - 113
SP - 275
EP - 278
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 3
ER -