{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T15:10:31Z","timestamp":1780499431826,"version":"3.54.1"},"reference-count":32,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T00:00:00Z","timestamp":1454284800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T00:00:00Z","timestamp":1454284800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["autonomicneuroscience.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Autonomic Neuroscience"],"published-print":{"date-parts":[[2016,2]]},"DOI":"10.1016\/j.autneu.2016.02.005","type":"journal-article","created":{"date-parts":[[2016,2,8]],"date-time":"2016-02-08T13:00:49Z","timestamp":1454936449000},"page":"20-26","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"special_numbering":"C","title":["A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings"],"prefix":"10.1016","volume":"195","author":[{"given":"Rossana","family":"Terlizzi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Calandra-Buonaura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Zanigni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Barletta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabina","family":"Capellari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Guaraldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Donadio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernesto","family":"Cason","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Contin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Poda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Tonon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Sambati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Gallassi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocco","family":"Liguori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Lodi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Cortelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.autneu.2016.02.005_bb0005","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1016\/j.neuron.2008.10.013","article-title":"The mystery and magic of glia: a perspective on their roles in health and disease","volume":"60","author":"Barres","year":"2008","journal-title":"Neuron"},{"issue":"10","key":"10.1016\/j.autneu.2016.02.005_bb0010","doi-asserted-by":"crossref","first-page":"2746","DOI":"10.1093\/hmg\/ddv034","article-title":"Messenger RNA processing is altered in autosomal dominant leukodystrophy","volume":"24","author":"Bartoletti-Stella","year":"2015","journal-title":"Hum. Mol. Genet."},{"issue":"21","key":"10.1016\/j.autneu.2016.02.005_bb0015","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1212\/01.wnl.0000335246.93495.92","article-title":"The arterial baroreflex: functional organization and involvement in neurologic disease","volume":"71","author":"Benarroch","year":"2008","journal-title":"Neurology"},{"issue":"8","key":"10.1016\/j.autneu.2016.02.005_bb0020","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1212\/WNL.37.8.1421","article-title":"Adrenergic dysfunction in hereditary adult-onset leukodystrophy","volume":"37","author":"Brown","year":"1987","journal-title":"Neurology"},{"key":"10.1016\/j.autneu.2016.02.005_bb0025","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1111\/j.1468-1331.2009.02536.x","article-title":"Mutations in the lamin B1 gene are not present in multiple sclerosis","volume":"16","author":"Brussino","year":"2009","journal-title":"Eur. J. Neurol."},{"issue":"4","key":"10.1016\/j.autneu.2016.02.005_bb0030","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1111\/j.1468-1331.2009.02844.x","article-title":"A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations","volume":"17","author":"Brussino","year":"2010","journal-title":"Eur. J. Neurol."},{"issue":"16","key":"10.1016\/j.autneu.2016.02.005_bb0035","doi-asserted-by":"crossref","first-page":"1726","DOI":"10.1212\/WNL.0b013e31826ea887","article-title":"Nuclear lamins: functions and clinical implications","volume":"79","author":"Cortelli","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.autneu.2016.02.005_bb0040","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1056\/NEJM198410113111504","article-title":"Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis","volume":"311","author":"Eldridge","year":"1984","journal-title":"N. Engl. J. Med."},{"issue":"9","key":"10.1016\/j.autneu.2016.02.005_bb0045","doi-asserted-by":"crossref","first-page":"3906","DOI":"10.1096\/fj.13-247635","article-title":"Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts","volume":"28","author":"Ferrera","year":"2014","journal-title":"FASEB J."},{"key":"10.1016\/j.autneu.2016.02.005_bb0050","doi-asserted-by":"crossref","DOI":"10.1002\/ana.24452","article-title":"LMNB1-related autosomal dominant leukodystrophy: clinical and radiological course","author":"Finnsson","year":"2015","journal-title":"Ann Neurol"},{"key":"10.1016\/j.autneu.2016.02.005_bb0055","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/B978-0-444-52902-2.00007-2","article-title":"Testing the autonomic nervous system","volume":"115","author":"Freeman","year":"2013","journal-title":"Handb Clin Neurol"},{"issue":"1\u20132","key":"10.1016\/j.autneu.2016.02.005_bb0060","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.autneu.2011.02.004","article-title":"Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome","volume":"161","author":"Freeman","year":"2011","journal-title":"Auton. Neurosci."},{"issue":"8593","key":"10.1016\/j.autneu.2016.02.005_bb0065","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1016\/S0140-6736(88)91842-9","article-title":"Noradrenaline response to edrophonium in primary autonomic failure: distinction between central and peripheral damage","volume":"1","author":"Gemmill","year":"1988","journal-title":"Lancet"},{"issue":"8","key":"10.1016\/j.autneu.2016.02.005_bb0070","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1002\/humu.22348","article-title":"Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression","volume":"34","author":"Giorgio","year":"2013","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.autneu.2016.02.005_bb0075","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1161\/CIRCULATIONAHA.108.805887","article-title":"Neurogenic orthostatic hypotension: a pathophysiological approach","volume":"119","author":"Goldstein","year":"2009","journal-title":"Circulation"},{"issue":"1\u20132","key":"10.1016\/j.autneu.2016.02.005_bb0080","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.autneu.2010.07.011","article-title":"Isolated in adult-onset autosomal dominant leukodystrophy","volume":"159","author":"Guaraldi","year":"2011","journal-title":"Auton. Neurosci."},{"key":"10.1016\/j.autneu.2016.02.005_bb0085","doi-asserted-by":"crossref","unstructured":"Heng MY, Lin ST, Verret L, et.al. Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model. J. Clin. Invest. 2013 Jun;123(6):2719\u201329.","DOI":"10.1172\/JCI66737"},{"issue":"4","key":"10.1016\/j.autneu.2016.02.005_bb0090","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1523\/JNEUROSCI.5994-10.2011","article-title":"Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin","volume":"31","author":"Lin","year":"2011","journal-title":"J Neurosci"},{"key":"10.1016\/j.autneu.2016.02.005_bb0095","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1002\/ajmg.b.30342","article-title":"Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5Mpb on chromosome 5q23","volume":"141B","author":"Marklund","year":"2006","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"10.1016\/j.autneu.2016.02.005_bb0100","first-page":"904","article-title":"Raininko R.MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms","volume":"27","author":"Melberg","year":"2006","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.autneu.2016.02.005_bb0105","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/S0091-679X(10)98014-X","article-title":"Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease","volume":"98","author":"Padiath","year":"2010","journal-title":"Methods Cell Biol."},{"issue":"10","key":"10.1016\/j.autneu.2016.02.005_bb0110","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1038\/ng1872","article-title":"Lamin B1 duplications cause autosomal dominant leukodystrophy","volume":"38","author":"Padiath","year":"2006","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.autneu.2016.02.005_bb0115","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.ymgme.2014.12.434","article-title":"A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies","volume":"114","author":"Parikh","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.autneu.2016.02.005_bb0120","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/S0733-8619(18)30374-8","article-title":"Clinical autonomic neuropharmacology","volume":"8","author":"Polinsky","year":"1990","journal-title":"Neurol. Clin."},{"issue":"6","key":"10.1016\/j.autneu.2016.02.005_bb0125","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1210\/jcem-51-6-1401","article-title":"The adrenal medullary response to hypoglycemia in patients with orthostatic hypotension","volume":"51","author":"Polinsky","year":"1980","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"10.1016\/j.autneu.2016.02.005_bb0130","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1007\/s00415-013-6958-3","article-title":"Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant","volume":"260","author":"Potic","year":"2013","journal-title":"J. Neurol."},{"key":"10.1016\/j.autneu.2016.02.005_bb0135","series-title":"GeneReviews\u00ae","article-title":"Dopamine beta-hydroxylase deficiency","author":"Robertson","year":"2003"},{"issue":"34","key":"10.1016\/j.autneu.2016.02.005_bb0140","doi-asserted-by":"crossref","first-page":"12002","DOI":"10.1523\/JNEUROSCI.1668-15.2015","article-title":"Defects of lipid synthesis are linked to the age-dependent demyelination caused by lamin B1 overexpression","volume":"35","author":"Rolyan","year":"2015","journal-title":"J Neurosci."},{"issue":"1","key":"10.1016\/j.autneu.2016.02.005_bb0145","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s10048-010-0269-y","article-title":"Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms","volume":"12","author":"Schuster","year":"2011","journal-title":"Neurogenetics"},{"issue":"6","key":"10.1016\/j.autneu.2016.02.005_bb0150","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/s10286-013-0205-y","article-title":"Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature","volume":"23","author":"Spritzer","year":"2013","journal-title":"Clin. Auton. Res."},{"key":"10.1016\/j.autneu.2016.02.005_bb0155","doi-asserted-by":"crossref","first-page":"328","DOI":"10.3174\/ajnr.A1354","article-title":"MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms","volume":"30","author":"Sundblom","year":"2009","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.autneu.2016.02.005_bb0160","doi-asserted-by":"crossref","DOI":"10.1016\/j.brainresbull.2015.07.002","article-title":"Brain magnetic resonance metabolic and microstructural changes in adult-onset autosomal dominant leukodystrophy","author":"Zanigni","year":"2015","journal-title":"Brain Res Bull"}],"container-title":["Autonomic Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1566070216300108?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1566070216300108?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T12:07:16Z","timestamp":1761566836000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1566070216300108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2]]},"references-count":32,"alternative-id":["S1566070216300108"],"URL":"https:\/\/doi.org\/10.1016\/j.autneu.2016.02.005","relation":{},"ISSN":["1566-0702"],"issn-type":[{"value":"1566-0702","type":"print"}],"subject":[],"published":{"date-parts":[[2016,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings","name":"articletitle","label":"Article Title"},{"value":"Autonomic Neuroscience","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.autneu.2016.02.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}