Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP)

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dc.authorwosidHamamcıoğlu, Mustafa Kemal/A-3520-2019
dc.authorwosidKILINÇER, Cumhur/C-7969-2014
dc.contributor.authorCelik, Yahya
dc.contributor.authorKilincer, Cumhur
dc.contributor.authorHamamcioglu, M. Kemal
dc.contributor.authorBalci, Kemal
dc.contributor.authorBirgili, Baris
dc.contributor.authorCobanoglu, Sebahattin
dc.contributor.authorUtku, Ufuk
dc.date.accessioned2024-06-12T11:03:21Z
dc.date.available2024-06-12T11:03:21Z
dc.date.issued2008
dc.departmentTrakya Üniversitesien_US
dc.description.abstractHereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant nerve disease usually caused by 1,5 Mb deletion on chromosome 17p11.2.2-p12, the region where the PMP-22 gene is located. The patients with HNPP usually have relapsing and remitting entrapment neuropathies due to compression. We present a 14-year-old male who had acute onset, right-sided ulnar nerve entrapment at the elbow. He had electrophysiological findings of bilateral ulnar nerve entrapments (more severe at the right side) at the elbow and bilateral median nerve entrapment at the wrist. Genetic tests of the patient demonstrated deletions in the 17p11.2 region. The patient underwent decompressive surgery for ulnar nerve entrapment at the elbow and completely recovered two months after the event. Although HNPP is extremely rare, it should be taken into consideration in young adults with entrapment neuropathies.en_US
dc.identifier.endpage84en_US
dc.identifier.issn1019-5149
dc.identifier.issue1en_US
dc.identifier.pmid18382985en_US
dc.identifier.startpage82en_US
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21614
dc.identifier.volume18en_US
dc.identifier.wosWOS:000256793000016en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish Neurosurgical Socen_US
dc.relation.ispartofTurkish Neurosurgeryen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHNPPen_US
dc.subjectEntrapment Neuropathyen_US
dc.subjectDNA Analysisen_US
dc.subjectDeletionen_US
dc.titleHereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP)en_US
dc.typeArticleen_US

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