{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T01:11:28Z","timestamp":1789780288358,"version":"4.0.1"},"reference-count":26,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_sjpain-2019-0090_s_001\">\n                    <jats:title>Background and aims<\/jats:title>\n                    <jats:p>Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal \u2013 dominant hereditary neuropathy caused by a deficiency in the peripheral protein PMP-22, due to deletion on chromosome 17p11,2 or in some rare cases point mutations in the PMP-22 gene. The clinical picture is characterized by recurrent mononeuropathies in nerves which frequently may be exposed to pressure, such as the median, ulnar, radial and peroneal nerves or also a more general neuropathy. Although pain is reported to be an unusual clinical symptom, there have been reports of pain in a surprisingly high proportion of these patients. Since pain may be explained by mechanisms in afferent small unmyelinated C- nerve fibers, an assessment of the function of small nerve fibers has been requested. The purpose of the present study was to investigate the presence of pain and the possible affection of afferent small nerve-fibers, A-\u03b4 and C-fibers, by quantitative sensory testing (QST)-assessment of thermal thresholds, as well as quantitative sudomotor axon reflex (QSART), a quantitative, validated assessment of efferent postganglionic sumodotor function. QST values were compared to values of age- and sex matched healthy subjects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_sjpain-2019-0090_s_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The 19 patients were investigated clinically, with an emphasis on pain characteristics, with nerve conduction studies (NCS) of major nerves in upper- and lower extremity, small fiber testing (QST, measurement of thermal thresholds) and with QSART.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_sjpain-2019-0090_s_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 10 patients reported numbness in some extremity, suggesting entrapment of individual nerves as well as a general neuropathy, as verified by NCS in nine patients. A total of 15 patients had findings compatible with a general polyneuropathy. A total of eight patients reported pain, seven patients with pain in the feet, described as burning, aching, shooting and six with severe pathological QST values, mainly cold detection, but also four patients with elevated thresholds to warmth. Four of the patients had signs of a severe sensory neuropathy on NCS, with no sural findings. One patient had only pain in the arms, with only minor changes on NCS and with normal QST-values. Cold detection thresholds (CD) were significantly elevated (reduced sensibility) on the dorsum of the foot (mean of two feet), in patients [26.0 \u00b0C (19.7\u201328.0)] as compared with healthy subjects [28.6 \u00b0C (27.4\u201329.6)\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.000]. There were also significantly elevated warmth detection thresholds (WD) in feet in patients 39.5 \u00b0C (36.4\u201342.9) compared to healthy subjects [37.7 \u00b0C (36.1\u201339.4)\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.048]. However, there were no significant differences in QST values between patients with and without pain.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_sjpain-2019-0090_s_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Of a total of 19 patients with verified HNPP, eight patients (42.1%) suffered from neuropathic pain, mainly in both feet.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_sjpain-2019-0090_s_005\">\n                    <jats:title>Implications<\/jats:title>\n                    <jats:p>Due to the high percentage of pain in HNPP, it is important not to disregard this diagnosis in a patient presenting with pain. Since there are no significant differences in QST values in patients with and without pain, routine QST studies in HNPP do not seem necessary.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/sjpain-2019-0090","type":"journal-article","created":{"date-parts":[[2019,9,19]],"date-time":"2019-09-19T05:03:24Z","timestamp":1568869404000},"page":"61-68","source":"Crossref","is-referenced-by-count":5,"title":["Pain and small-fiber affection in hereditary neuropathy with liability to pressure palsies (HNPP)"],"prefix":"10.1515","volume":"20","author":[{"given":"Tore Thomas","family":"Dukefoss","sequence":"first","affiliation":[{"name":"Section of Clinical Medicine, The Department of Neurology, Sykehuset Innlandet Trust , Lillehammer , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inge Petter","family":"Kleggetveit","sequence":"additional","affiliation":[{"name":"Section of Clinical Neurophysiology, The Department of Neurology , Oslo University Hospital \u2013 Rikshospitalet , Oslo , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tormod","family":"Hel\u00e5s","sequence":"additional","affiliation":[{"name":"Section of Clinical Neurophysiology, The Department of Neurology, Telemark Hospital Trust , Skien , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"J\u00f8rum","sequence":"additional","affiliation":[{"name":"Section of Clinical Neurophysiology, The Department of Neurology , Oslo University Hospital \u2013 Rikshospitalet, Institute of Clinical Medicine, University of Oslo , Oslo , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2019,9,19]]},"reference":[{"key":"2025120910031655792_j_sjpain-2019-0090_ref_001","doi-asserted-by":"crossref","unstructured":"De Oliveira APM, Pereira RC, Onofre PT, Marques VD, de Andrade GB, Barreira AA, Marques Jr. W. Clinical and neurophysiological features of the hereditary neurpathy with liability to pressure palsy due to the 17p11.2 deletion. Arq Neuropsiquiatr 2016;74:100\u20135.","DOI":"10.1590\/0004-282X20160010"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_002","doi-asserted-by":"crossref","unstructured":"Chrestian N, McMillan H, Poulin C, Campbell C, Vajsar J. Hereditary neuropathy with liability to pressure palsies in childhood: case series and literature update. Neuromuscul Disord 2015;25:693\u20138.","DOI":"10.1016\/j.nmd.2015.06.463"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_003","doi-asserted-by":"crossref","unstructured":"Hong Y-H, Kim M, Kim H-J, Sung J-J, Kim SH, Lee K-W. Clinical and electrophysiological features of HNPP patients with 17p11.2 deletion. Acta Neurol Scand 2003;108:352\u20138.","DOI":"10.1034\/j.1600-0404.2003.00132.x"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_004","doi-asserted-by":"crossref","unstructured":"Luigetti M, Del Grande A, Conte A, Lo Monaco M, Bisogni G, Romano A, Zollino M, Rossini PM, Sabatelli M. Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience. J Neurol Sci 2014;341:46\u201350.","DOI":"10.1016\/j.jns.2014.03.046"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_005","doi-asserted-by":"crossref","unstructured":"\u00d8rstavik K, Skard Heier M, Young P, St\u00f6gbauer F. Brachial plexus involvement as the only expression of hereditary nerupathy with liability to pressure palsies. Muscle Nerve 2001;24:1093\u20136.","DOI":"10.1002\/mus.1116"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_006","doi-asserted-by":"crossref","unstructured":"Foley C, Schofeld I, Eglon G, Bailey G, Chinney PF, Horvath R. Charcot-Marie-tooth disease in northern england. J Neurol Neurosurg Psychiatry 2012;283:572\u20133.","DOI":"10.1136\/jnnp-2011-300285"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_007","doi-asserted-by":"crossref","unstructured":"Dubourg O, Mouton P, Brice A, LeGuern E, Bouche P. Guidelines for diagnosis hereditary neuropathy with liability to pressure palsies. Neuromuscul Disord 2000;10:206\u20138.","DOI":"10.1016\/S0960-8966(99)00103-0"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_008","doi-asserted-by":"crossref","unstructured":"Chance P, Leusch MW, Lipe H, Brown Sr. RH, Brown Jr. RH, Bird TD. Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. Neurology 1994;44:2253\u20137.","DOI":"10.1212\/WNL.44.12.2253"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_009","doi-asserted-by":"crossref","unstructured":"Goudier R, LeGuern E, Emile J, Tardieu S, Gabon F, Samid M, Weissenbach J, Agid Y, Bouche P, Brice A. Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiological and genetic entities. Neurology 1994;44:2250\u20132.","DOI":"10.1212\/WNL.44.12.2250"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_010","doi-asserted-by":"crossref","unstructured":"Yilmaz U, Bird TT, Carter GT, Wang LH, Weiss MD. Pain in hereditary neuropathy with liability to pressure palsy: an association with fibromyalgia syndrome? Muscle Nerve 2015;15:385\u201390.","DOI":"10.1002\/mus.24331"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_011","doi-asserted-by":"crossref","unstructured":"Yurrebaso I, Casado OL, Barcena J, Perez de Nanclares G, Aguirre U. Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation. Neuromusc Disord 2014;24:56\u201362.","DOI":"10.1016\/j.nmd.2013.09.005"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_012","doi-asserted-by":"crossref","unstructured":"Nogu\u00e9s M, Barroso F, Rivero A, Cammarota A, Leiguerda R. Pain: unusual presentation of hereditary nerupathy with liability to pressure palsies. Posters\/Clin Neurophysiol 2006;117:S121\u2013337.","DOI":"10.1016\/j.clinph.2006.06.604"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_013","doi-asserted-by":"crossref","unstructured":"Scadding JW, Koltzenburg M. Painful peripheral neuropathies. In: McMahon SB, Koltzenburg M, editors. Wall and Melzack\u2019s Textbook of Pain, 5th ed. Philadelphia PA: Elsevier Churchill Livingstone, 2006:973\u201399.","DOI":"10.1016\/B0-443-07287-6\/50067-9"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_014","doi-asserted-by":"crossref","unstructured":"Low VA, Sandroni P, Fealey R, Low PA. Detection of small fiber neuropathy by sudomotor testing. Muscle Nerve 2006;34:57\u201361.","DOI":"10.1002\/mus.20551"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_015","doi-asserted-by":"crossref","unstructured":"Hui-Chou HG, Hashemi SS, Hoke A, Dellon AL. Clinical implications of peripheral myelin. J Reconstr Microsurg 2011;27:67\u201373.","DOI":"10.1055\/s-0030-1267832"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_016","doi-asserted-by":"crossref","unstructured":"Kleggetveit IP, J\u00f8rum E. Large and small fiber dysfunction in peripheral nerve injuries with or without spontaneous pain. J Pain 2010;12:1305\u201310.","DOI":"10.1016\/j.jpain.2010.03.004"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_017","doi-asserted-by":"crossref","unstructured":"Kr\u00e4mer H, Rolke R, Bickel A, Birklein F. Thermal thresholds predict painfulness of diabetic nerupathies. Diabetes Care 2004;27:2386\u20137.","DOI":"10.2337\/diacare.27.10.2386"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_018","doi-asserted-by":"crossref","unstructured":"Vrethem M, Boivie J, Arnqvist H, Holmgren H, Lindstrom T. Painful polyneuropathy in patients with and without diabetes; clinical, neurophysiological and quantitative sensory characteristics. Clin J Pain 2002;18:122\u20137.","DOI":"10.1097\/00002508-200203000-00008"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_019","doi-asserted-by":"crossref","unstructured":"Kleggetveit IP, Namer B, Schmidt R, Hel\u00e5s T, R\u00fcckel M, \u00d8rstavik K, Schmelz M, J\u00f8rum E. High spontaneous activity of C-nociceptors in painful polyneuropathy. Pain 2012;153:2040\u20137.","DOI":"10.1016\/j.pain.2012.05.017"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_020","doi-asserted-by":"crossref","unstructured":"Schmelz M. Quantitative sensory test correlates with neuropathy, not with pain. Pain 2018;159:409\u201310.","DOI":"10.1097\/j.pain.0000000000001142"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_021","doi-asserted-by":"crossref","unstructured":"L\u00f8seth S, Lindal S, St\u00e5lberg E, Mellgren SI. Intraepidermal nerve fiber density, quantitative sensory trsting and nerve conduction studies in a patient material with symptoms and signs of sensory polyneuropathy. Eur J Neurol 2006;13:105\u201311.","DOI":"10.1111\/j.1468-1331.2006.01232.x"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_022","doi-asserted-by":"crossref","unstructured":"Karlsson P, Haratounian S, Polydefkis M, Nyegaard JR, Jenssen TS. Structural and functional characterization of nerve fibers in polyneuropathy and healthy subjects. Scand J Pain 2016;10:28\u201335.","DOI":"10.1016\/j.sjpain.2015.08.007"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_023","doi-asserted-by":"crossref","unstructured":"Choi YH, Dunn B. Low back pain with radicular symptoms as a presentation of hereditary neuropathy with liability to pressure palsies: the diagnostic challenge of an atypical presentation. Muscle Nerve 2016;53:655\u20136.","DOI":"10.1002\/mus.25040"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_024","doi-asserted-by":"crossref","unstructured":"Laur\u00e0 M, Hutton EJ, Blake J, Lunn MP, Fox Z, Pareyon D, Solari A, Radice D, Koltzenburg M, Reilly MM. Pain and small fiber function in Charcot-Marie tooth disease 1A. Muscle Nerve 2014;50:366\u201371.","DOI":"10.1002\/mus.24169"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_025","doi-asserted-by":"crossref","unstructured":"Nolano M, Manganelli F, Provitera V, Piscioatta C, Stancanelli A, Caporaso G, Iodice R, Shy ME, Sanotoro L. Small nevre fiber involvement in CMT1A. Neurology 2015;84:407414.","DOI":"10.1212\/WNL.0000000000001188"},{"key":"2025120910031655792_j_sjpain-2019-0090_ref_026","doi-asserted-by":"crossref","unstructured":"Hanson P, Deltombe T. Preliminary study of large and small nerve fibers in Charcot-Marie-Tooth, type 1. Am J Phys Med Rehabil 1998;77:45\u20138.","DOI":"10.1097\/00002060-199801000-00008"}],"container-title":["Scandinavian Journal of Pain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/view\/journals\/sjpain\/20\/1\/article-p61.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/sjpain-2019-0090\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/sjpain-2019-0090\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T12:40:56Z","timestamp":1765284056000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/sjpain-2019-0090\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,19]]},"references-count":26,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,10,12]]},"published-print":{"date-parts":[[2019,12,18]]}},"alternative-id":["10.1515\/sjpain-2019-0090"],"URL":"https:\/\/doi.org\/10.1515\/sjpain-2019-0090","relation":{},"ISSN":["1877-8879","1877-8860"],"issn-type":[{"value":"1877-8879","type":"electronic"},{"value":"1877-8860","type":"print"}],"subject":[],"published":{"date-parts":[[2019,9,19]]}}}