{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T21:58:58Z","timestamp":1784584738433,"version":"3.55.0"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2013,8,8]],"date-time":"2013-08-08T00:00:00Z","timestamp":1375920000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Auton Res"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1007\/s10286-013-0205-y","type":"journal-article","created":{"date-parts":[[2013,8,7]],"date-time":"2013-08-07T07:28:07Z","timestamp":1375860487000},"page":"333-338","source":"Crossref","is-referenced-by-count":10,"title":["Autonomic dysfunction in adult-onset alexander disease"],"prefix":"10.1007","volume":"23","author":[{"given":"Scott D.","family":"Spritzer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Srijana","family":"Zarkou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen P.","family":"Ireland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathon L.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brent P.","family":"Goodman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,8,8]]},"reference":[{"key":"205_CR1","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1038\/87020","volume":"27","author":"M Brenner","year":"2001","unstructured":"Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A (2001) Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genetics 27:117\u2013120","journal-title":"Nat Genetics"},{"key":"205_CR2","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1212\/WNL.26.7.607","volume":"26","author":"LS Russo Jr","year":"1976","unstructured":"Russo LS Jr, Aron A, Anderson PJ (1976) Alexander\u2019s disease: a report and a reappraisal. Neurology 26:607\u2013614","journal-title":"Neurology"},{"key":"205_CR3","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1212\/WNL.0b013e3182309f72","volume":"77","author":"M Prust","year":"2011","unstructured":"Prust M, Wang J et al (2011) GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology 77:1287\u20131294","journal-title":"Neurology"},{"key":"205_CR4","doi-asserted-by":"crossref","first-page":"1955","DOI":"10.1007\/s00415-010-5706-1","volume":"257","author":"P Balbi","year":"2010","unstructured":"Balbi P, Salvini S, Fundaro C, Frizzitta G, Maestri R, Mosah D, Uggetti C, Sechi GP (2010) The clinical spectrum of late onset Alexander disease: a systematic literature review. J Neurol 257:1955\u20131962","journal-title":"J Neurol"},{"key":"205_CR5","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1136\/jnnp.56.9.977","volume":"56","author":"RS Howard","year":"1993","unstructured":"Howard RS, Greenwood R, Gawler J, Scaravilli F, Marsden CD, Harding AD (1993) A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia, and Rosenthal fibre formation. J Neurol Neurosurg Psychiatry 56:977\u2013981","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"205_CR6","doi-asserted-by":"crossref","first-page":"2266","DOI":"10.1212\/WNL.45.12.2266","volume":"45","author":"JD Schwankhaus","year":"1995","unstructured":"Schwankhaus JD, Parisi JE, Gulledge WR et al (1995) Hereditary adult onset Alexander disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. Neurology 45:2266\u20132271","journal-title":"Neurology"},{"issue":"10","key":"205_CR7","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1002\/mds.20161","volume":"19","author":"D Thyagarajan","year":"2004","unstructured":"Thyagarajan D, Chataway T, Li R, Gai WP, Brenner M (2004) Dominantly inherited adult onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene. Mov Disord 19(10):1244\u20131247","journal-title":"Mov Disord"},{"key":"205_CR8","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/ana.10382","volume":"53","author":"EN Probst","year":"2003","unstructured":"Probst EN, Hagel C, Weisz V, Nagel S, Wittkugel O, Zeumer H, Kohlschutter A (2003) Atypical focal MRI lesions in a case of juvenile Alexander disease. Ann Neurol 53:118\u2013120","journal-title":"Ann Neurol"},{"key":"205_CR9","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/s00415-007-0654-0","volume":"255","author":"P Balbi","year":"2008","unstructured":"Balbi P, Seri M, Ceccherini I, Uggetti C, Casale R, Fundaro C, Caroli F, Santoro L (2008) Adult onset Alexander disease: report on a family. J Neurol 255:24\u201330","journal-title":"J Neurol"},{"key":"205_CR10","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/mds.21774","volume":"23","author":"KL Howard","year":"2008","unstructured":"Howard KL, Hall DA, Moon M, Agarwal P, Newman E, Brenner M (2008) Adult onset Alexander disease with progressive ataxia and palatal tremor. Mov Disord 23:118\u2013122","journal-title":"Mov Disord"},{"key":"205_CR11","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1002\/mds.23042","volume":"25","author":"M Ishikawa","year":"2010","unstructured":"Ishikawa M, Shimohata T, Ishihara T et al (2010) Sleep apnea associated with floppy epiglottis in adult onset Alexander disease: a case report. Mov Disord 25:1098\u20131100","journal-title":"Mov Disord"},{"key":"205_CR12","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/s00415-011-6201-z","volume":"259","author":"H Suzuki","year":"2012","unstructured":"Suzuki H, Yoshida T, Kitada M, Ichihashi J, Sasayama H, Nishikawa Y, Mistui Y, Nakagawa M, Kusunoki S (2012) Late onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex. J Neurol 259:457\u2013461","journal-title":"J Neurol"},{"key":"205_CR13","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1002\/ana.10375","volume":"52","author":"M Namakewa","year":"2002","unstructured":"Namakewa M, Takiyama Y et al (2002) Identification of GFAP gene mutation in hereditary adult-onset Alexander\u2019s disease. Ann Neurol 52:779\u2013785","journal-title":"Ann Neurol"},{"key":"205_CR14","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/S0304-3940(03)00900-5","volume":"350","author":"T Kinoshita","year":"2003","unstructured":"Kinoshita T, Imaizumi T, Miura Y, Fujimoto H et al (2003) A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation. Neurosci Lett 350:169\u2013172","journal-title":"Neurosci Lett"},{"key":"205_CR15","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1212\/01.wnl.0000259543.95222.9d","volume":"68","author":"J Sreedharan","year":"2007","unstructured":"Sreedharan J, Shaw CE, Jarosz J, Samuel M (2007) Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances. Neurology 68:1322\u20131323","journal-title":"Neurology"},{"key":"205_CR16","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1111\/j.1600-0404.2010.01427.x","volume":"124","author":"T Yoshida","year":"2011","unstructured":"Yoshida T, Sasayama H, Mizuta I, Okamoto Y, Yoshida M et al (2011) Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients. Acta Neurol Scand 124:104\u2013108","journal-title":"Acta Neurol Scand"},{"key":"205_CR17","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1136\/jnnp.2009.178079","volume":"81","author":"T Ayaki","year":"2010","unstructured":"Ayaki T, Shinohara M et al (2010) A case of sporadic adult Alexander disease presenting with acute onset, remission and relapse. J Neurol Neurosurg Psychiatry 81:1292\u20131293","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"205_CR18","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1001\/archneur.60.9.1307","volume":"60","author":"E Stumpf","year":"2003","unstructured":"Stumpf E, Masson H, Duquette A et al (2003) Adult onset Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acidic protein. Arch Neurol 60:1307\u20131312","journal-title":"Arch Neurol"},{"key":"205_CR19","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.3174\/ajnr.A1060","volume":"29","author":"L Farina","year":"2008","unstructured":"Farina L, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M (2008) Can MR imaging diagnose adult onset Alexander disease? AJNR 29:1190\u20131196","journal-title":"AJNR"},{"key":"205_CR20","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1093\/brain\/72.3.373","volume":"72","author":"WS Alexander","year":"1949","unstructured":"Alexander WS (1949) Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 72:373\u2013381","journal-title":"Brain"},{"key":"205_CR21","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1007\/BF00685171","volume":"2","author":"FS Vogel","year":"1962","unstructured":"Vogel FS, Hallervorden J (1962) Leukodystrophy with diffuse Rosenthal fiber formation. Acta Neuropathol 2:126\u2013143","journal-title":"Acta Neuropathol"},{"key":"205_CR22","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1001\/archneur.1968.00480050064006","volume":"19","author":"FJ Seil","year":"1968","unstructured":"Seil FJ, Schochet SS, Earle KM (1968) Alexander\u2019s disease in an adult: report of a case. Arch Neurol 19:494\u2013502","journal-title":"Arch Neurol"},{"key":"205_CR23","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1097\/00005072-197307000-00007","volume":"32","author":"AR Mastri","year":"1973","unstructured":"Mastri AR, Sung JH (1973) Diffuse Rosenthal fiber formation in the adult: report of four cases. J Neuropathol Exp Neurol 32:424\u2013436","journal-title":"J Neuropathol Exp Neurol"},{"key":"205_CR24","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1093\/brain\/awn178","volume":"131","author":"D Pareyson","year":"2008","unstructured":"Pareyson D, Fancellu R, Mariotti C et al (2008) Adult onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain 131:2321\u20132331","journal-title":"Brain"},{"key":"205_CR25","first-page":"37","volume-title":"Autonomic failure: a textbook of clinical disorders of the autonomic nervous system","author":"EE Benarroch","year":"1999","unstructured":"Benarroch EE (1999) Central neurotransmitters and neuromodulators in cardiovascular regulation. In: Mathias CJ, Bannister R (eds) Autonomic failure: a textbook of clinical disorders of the autonomic nervous system. Oxford University Press, New York, pp 37\u201344"},{"key":"205_CR26","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1002\/ana.410430205","volume":"43","author":"EE Benarroch","year":"1998","unstructured":"Benarroch EE, Smithson IL, Low PA, Parisi JE (1998) Depletion of catecholaminergic neurons of the rostral ventrolateral medulla in multiple systems atrophy with autonomic failure. Ann Neurol 43:156\u2013163","journal-title":"Ann Neurol"},{"key":"205_CR27","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1093\/brain\/awh376","volume":"128","author":"EE Benarroch","year":"2005","unstructured":"Benarroch EE, Schmeichel AM, Low PA, Boeve BF, Sandroni P, Parisi JE (2005) Involvement of medullary regions controlling sympathetic output in Lewy body disease. Brain 128:338\u2013344","journal-title":"Brain"},{"issue":"1\u20132","key":"205_CR28","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.autneu.2010.07.009","volume":"158","author":"EE Benarroch","year":"2010","unstructured":"Benarroch EE, Schmeichel AM, Low PA, Parisi JE (2010) Differential involvement of the periaqueductal gray in multiple system atrophy. Auton Neurosci 158(1\u20132):111\u2013117","journal-title":"Auton Neurosci"}],"container-title":["Clinical Autonomic Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10286-013-0205-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10286-013-0205-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10286-013-0205-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T08:12:36Z","timestamp":1559117556000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10286-013-0205-y"}},"subtitle":["A case report and review of the literature"],"short-title":[],"issued":{"date-parts":[[2013,8,8]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["205"],"URL":"https:\/\/doi.org\/10.1007\/s10286-013-0205-y","relation":{},"ISSN":["0959-9851","1619-1560"],"issn-type":[{"value":"0959-9851","type":"print"},{"value":"1619-1560","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,8]]}}}