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• W2023786295 abstract "Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant peripheral neuropathy that results from deletion of a 1.5-Megabase pair (Mb) segment of the short arm (p) of chromosome 17. Hereditary neuropathy with liability to pressure palsies increases susceptibility of peripheral nerves to pressure and trauma and can be associated with symptoms at multiple anatomic entrapment sites. Many patients present with multiple upper-extremity entrapment neuropathies and the etiology is uncertain. We hypothesized that some of these patients have an underlying hereditary neuropathy. The purpose of this study was to determine the prevalence of HNPP in patients with multiple surgically treated upper-extremity entrapment neuropathies.The inclusion criterion for the study was history of more than 1 carpal tunnel release and/or ulnar nerve transposition. The exclusion criteria were history of diabetes or history of Charcot-Marie-Tooth neuropathy. Fifty-nine patients were in the study group. Two patients known to have the 17p11.2 deletion were used as controls. Genomic DNA was extracted from peripheral blood. Each sample was genotyped using polymerase chain reaction (PCR) amplification with short tandem repeat polymorphism markers within the 1.5-Mb region of 17p deleted in HNPP. Markers were scored as homozygous or heterozygous after resolution by polyacrylamide gel electrophoresis and silver staining.The 2 control patients were homozygous for 11 markers. None of the 59 study patients were homozygous for all markers tested in the deleted region. No study patient had the 17p deletion diagnostic for HNPP. Based on the sample size of 59 patients the 95% confidence interval for the prevalence of the 17p11.2 deletion in this population is 0% to 5%.We found no evidence for an association between HNPP and patients who have multiple surgical releases for upper-extremity entrapment neuropathies." @default.
• W2023786295 created "2016-06-24" @default.
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• W2023786295 date "2005-11-01" @default.
• W2023786295 modified "2023-09-25" @default.
• W2023786295 title "The Prevalence of Hereditary Neuropathy With Liability to Pressure Palsies in Patients With Multiple Surgically Treated Entrapment Neuropathies" @default.
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• W2023786295 doi "https://doi.org/10.1016/j.jhsa.2005.06.020" @default.
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