{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T19:26:21Z","timestamp":1761765981964,"version":"3.37.3"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2015,9,26]],"date-time":"2015-09-26T00:00:00Z","timestamp":1443225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100005969","name":"Universit\u00e0 di Bologna","doi-asserted-by":"publisher","award":["RFO 2012"],"award-info":[{"award-number":["RFO 2012"]}],"id":[{"id":"10.13039\/501100005969","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2015,10]]},"DOI":"10.1007\/s00415-015-7896-z","type":"journal-article","created":{"date-parts":[[2015,9,26]],"date-time":"2015-09-26T10:28:40Z","timestamp":1443263320000},"page":"2373-2381","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia"],"prefix":"10.1007","volume":"262","author":[{"given":"Anna","family":"Bartoletti-Stella","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo","family":"Chiaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Calandra-Buonaura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Contin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesa","family":"Scaglione","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Barletta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annagrazia","family":"Cecere","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Garagnani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Tieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Ferrarini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Piras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Franceschi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Delledonne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Cortelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabina","family":"Capellari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,9,26]]},"reference":[{"key":"7896_CR1","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1111\/j.1749-6632.1999.tb08562.x","volume":"883","author":"PF Chance","year":"1999","unstructured":"Chance PF (1999) Overview of hereditary neuropathy with liability to pressure palsies. Ann N Y Acad Sci 883:14\u201321","journal-title":"Ann N Y Acad Sci"},{"key":"7896_CR2","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1007\/s12035-012-8370-x","volume":"47","author":"J Li","year":"2013","unstructured":"Li J, Parker B, Martyn C, Natarajan C, Guo J (2013) The PMP22 gene and its related diseases. Mol Neurobiol 47:673\u2013698","journal-title":"Mol Neurobiol"},{"key":"7896_CR3","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/1750-1172-1-7","volume":"1","author":"JM Senard","year":"2006","unstructured":"Senard JM, Rouet P (2006) Dopamine beta-hydroxylase deficiency. Orphanet J Rare Dis 1:7","journal-title":"Orphanet J Rare Dis"},{"key":"7896_CR4","unstructured":"Robertson D, Garland EM, Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K (1993) Dopamine beta-hydroxylase deficiency. In: Seattle, WA (ed) Genereviews, University of Washington, Seattle. Initial Posting: September 4, 2003; Last Update: January 24, 2013"},{"key":"7896_CR5","first-page":"183","volume":"1","author":"A Man in \u2018t Veld","year":"1987","unstructured":"Man in \u2018t Veld A, Boomsma F, Moleman P, Schalekamp MA (1987) Congenital dopamine-beta-hydroxylase deficiency. A novel orthostatic syndrome. Lancet 1:183\u2013188","journal-title":"A novel orthostatic syndrome. Lancet"},{"key":"7896_CR6","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1093\/ajh\/1.3.231","volume":"1","author":"A Man in \u2018t Veld","year":"1988","unstructured":"Man in \u2018t Veld A, Boomsma F, Lenders J, vd meiracker A, Julien C, Tulen J, Moleman P, Thien T, Lamberts S, Schalekamp M (1988) Patients with congenital dopamine beta-hydroxylase deficiency. A lesson in catecholamine physiology. Am J Hypertens 1:231\u2013238","journal-title":"Am J Hypertens"},{"key":"7896_CR7","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1212\/WNL.40.2.370","volume":"40","author":"I Biaggioni","year":"1990","unstructured":"Biaggioni I, Goldstein DS, Atkinson T, Robertson D (1990) Dopamine-beta-hydroxylase deficiency in humans. Neurology 40:370\u2013373","journal-title":"Neurology"},{"key":"7896_CR8","first-page":"617","volume":"75","author":"CJ Mathias","year":"1990","unstructured":"Mathias CJ, Bannister RB, Cortelli P, Heslop K, Polak JM, Raimbach S, Springall DR, Watson L (1990) Clinical, autonomic and therapeutic observations in two siblings with postural hypotension and sympathetic failure due to an inability to synthesize noradrenaline from dopamine because of a deficiency of dopamine beta hydroxylase. Q J Med 75:617\u2013633","journal-title":"Q J Med"},{"key":"7896_CR9","first-page":"7","volume":"6","author":"A Gentric","year":"1994","unstructured":"Gentric A, Fouilhoux A, Caroff M, Mottier D, Jouquan J (1994) Dopamine B hydroxylase deficiency responsible for severe dysautonomic orthostatic hypotension in an elderly patient: clinical experience. J Age Relat Disord 6:7\u20138","journal-title":"J Age Relat Disord"},{"key":"7896_CR10","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/0165-1838(95)00048-3","volume":"55","author":"JM Thompson","year":"1995","unstructured":"Thompson JM, O\u2019Callaghan CJ, Kingwell BA, Lambert GW, Jennings GL, Esler MD (1995) Total norepinephrine spillover, muscle sympathetic nerve activity and heart-rate spectral analysis in a patient with dopamine beta-hydroxylase deficiency. J Auton Nerv Syst 55:198\u2013206","journal-title":"J Auton Nerv Syst"},{"key":"7896_CR11","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1177\/0310057X0203000416","volume":"30","author":"NJ Scurrah","year":"2002","unstructured":"Scurrah NJ, Ross AW, Solly M (2002) Peripartum management of a patient with dopamine beta-hydroxylase deficiency, a rare congenital cause of dysautonomia. Anaesth Intensive Care 30:484\u2013486","journal-title":"Anaesth Intensive Care"},{"key":"7896_CR12","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/ajmg.10196","volume":"108","author":"CH Kim","year":"2002","unstructured":"Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D, Kim KS (2002) Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. Am J Med Genet 108:140\u2013147","journal-title":"Am J Med Genet"},{"key":"7896_CR13","doi-asserted-by":"crossref","first-page":"S13","DOI":"10.1016\/S0140-6736(05)67826-9","volume":"366","author":"EM Garland","year":"2005","unstructured":"Garland EM, Raj SR, Demartinis N, Robertson D (2005) Case report: marathon runner with severe autonomic failure. Lancet 366:S13","journal-title":"Lancet"},{"key":"7896_CR14","doi-asserted-by":"crossref","first-page":"e38","DOI":"10.1136\/jmg.2003.009282","volume":"41","author":"J Deinum","year":"2004","unstructured":"Deinum J, Steenbergen-Spanjers GC, Jansen M, Boomsma F, Lenders JW, van Ittersum FJ, H\u00fcck N, van den Heuvel LP, Wevers RA (2004) DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndrome. J Med Genet 41:e38","journal-title":"J Med Genet"},{"key":"7896_CR15","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/s00401-006-0103-7","volume":"112","author":"WP Cheshire Jr","year":"2006","unstructured":"Cheshire WP Jr, Dickson DW, Nahm KF, Kaufmann HC, Benarroch EE (2006) Dopamine beta-hydroxylase deficiency involves the central autonomic network. Acta Neuropathol 112:227\u2013229","journal-title":"Acta Neuropathol"},{"key":"7896_CR16","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1002\/ajmg.a.33269","volume":"152A","author":"A Erez","year":"2010","unstructured":"Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T (2010) Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency-case report and review of the literature. Am J Med Genet A 152A:732\u2013736","journal-title":"Am J Med Genet A"},{"key":"7896_CR17","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s10286-009-0049-7","volume":"20","author":"F Despas","year":"2010","unstructured":"Despas F, Pathak A, Berry M, Cagnac R, Massabuau P, Liozon E, Galinier M, Senard JM (2010) DBH deficiency in an elderly patient: efficacy and safety of chronic droxidopa. Clin Auton Res 20:205\u2013207","journal-title":"Clin Auton Res"},{"key":"7896_CR18","doi-asserted-by":"crossref","first-page":"9196","DOI":"10.1074\/jbc.M110.192351","volume":"286","author":"CH Kim","year":"2011","unstructured":"Kim CH, Leung A, Huh YH, Yang E, Kim DJ, Leblanc P, Ryu H, Kim K, Kim DW, Garland EM, Raj SR, Biaggioni I, Robertson D, Kim KS (2011) Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase. J Biol Chem 286:9196\u20139204","journal-title":"J Biol Chem"},{"key":"7896_CR19","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.ajo.2013.03.009","volume":"156","author":"L Phillips","year":"2013","unstructured":"Phillips L, Robertson D, Melson MR, Garland EM, Joos KM (2013) Pediatric ptosis as a sign of treatable autonomic dysfunction. Am J Ophthalmol 156:370\u2013374","journal-title":"Am J Ophthalmol"},{"key":"7896_CR20","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.autneu.2010.07.011","volume":"159","author":"P Guaraldi","year":"2011","unstructured":"Guaraldi P, Donadio V, Capellari S, Contin M, Casadio MC, Montagna P, Liguori R, Cortelli P (2011) Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy. Auton Neurosci 159:123\u2013126","journal-title":"Auton Neurosci"},{"key":"7896_CR21","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","volume":"37","author":"FO Desmet","year":"2009","unstructured":"Desmet FO, Hamroun D, Lalande M, Collod-B\u00e9roud G, Claustres M, B\u00e9roud C (2009) Human splicing finder: an online bioinformatics tool to predict splicing signals. Nucl Acids Res 37:e67","journal-title":"Nucl Acids Res"},{"key":"7896_CR22","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","volume":"11","author":"G Yeo","year":"2004","unstructured":"Yeo G, Burge CB (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11:377\u2013394","journal-title":"J Comput Biol"},{"key":"7896_CR23","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073\u20131081","journal-title":"Nat Protoc"},{"key":"7896_CR24","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248\u2013249","journal-title":"Nat Methods"},{"key":"7896_CR25","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, R\u00f6delsperger C, Schuelke M, Seelow D (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575\u2013576","journal-title":"Nat Methods"},{"key":"7896_CR26","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1093\/nar\/gkr407","volume":"39","author":"B Reva","year":"2011","unstructured":"Reva B, Antipin Y, Sander C (2011) Predicting the functional impact of protein mutations: application to cancer genomics. Nucl Acids Res 39:e118","journal-title":"Nucl Acids Res"},{"key":"7896_CR27","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/humu.22225","volume":"34","author":"HA Shihab","year":"2013","unstructured":"Shihab HA, Gough J, Cooper DN, Stenson PD, Barker GL, Edwards KJ, Day IN, Gaunt TR (2013) Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat 34:57\u201365","journal-title":"Hum Mutat"},{"key":"7896_CR28","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1212\/WNL.0b013e3182a1ab4a","volume":"81","author":"EE Benarroch","year":"2013","unstructured":"Benarroch EE (2013) Monoamine transporters: structure, regulation, and clinical implications. Neurology 81:761\u2013768","journal-title":"Neurology"},{"key":"7896_CR29","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1001\/archneur.63.1.112","volume":"63","author":"JA Hodapp","year":"2006","unstructured":"Hodapp JA, Carter GT, Lipe HP, Michelson SJ, Kraft GH, Bird TD (2006) Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol 63:112\u2013117","journal-title":"Arch Neurol"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-015-7896-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-015-7896-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-015-7896-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T20:55:18Z","timestamp":1567198518000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-015-7896-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,26]]},"references-count":29,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["7896"],"URL":"https:\/\/doi.org\/10.1007\/s00415-015-7896-z","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"type":"print","value":"0340-5354"},{"type":"electronic","value":"1432-1459"}],"subject":[],"published":{"date-parts":[[2015,9,26]]}}}