{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T06:36:59Z","timestamp":1792305419727,"version":"4.4.0"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2015,5,30]],"date-time":"2015-05-30T00:00:00Z","timestamp":1432944000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"NICHD","award":["HD41890"],"award-info":[{"award-number":["HD41890"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1186\/s13023-015-0282-1","type":"journal-article","created":{"date-parts":[[2015,6,18]],"date-time":"2015-06-18T11:07:43Z","timestamp":1434625663000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Selective cognitive and psychiatric manifestations in Wolfram Syndrome"],"prefix":"10.1186","volume":"10","author":[{"given":"Allison N.","family":"Bischoff","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela M.","family":"Reiersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Buttlaire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amal","family":"Al-lozi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tasha","family":"Doty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bess A.","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Hershey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Washington University Wolfram Syndrome Research Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,5,30]]},"reference":[{"key":"282_CR1","first-page":"715","volume":"9","author":"DJ Wolfram","year":"1938","unstructured":"Wolfram DJ. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc. 1938;9:715\u20138.","journal-title":"Mayo Clin Proc"},{"issue":"5","key":"282_CR2","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1093\/hmg\/10.5.477","volume":"10","author":"K Takeda","year":"2001","unstructured":"Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, et al. WFS1 (Wolfram Syndrome 1) gene product : predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet. 2001;10(5):477\u201384.","journal-title":"Hum Mol Genet"},{"issue":"11","key":"282_CR3","doi-asserted-by":"publisher","first-page":"1159","DOI":"10.1093\/hmg\/ddh125","volume":"13","author":"H Ishihara","year":"2004","unstructured":"Ishihara H, Takeda S, Tamura A, Takahashi R, Yamaguchi S, Takei D, et al. Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion. Hum Mol Genet. 2004;13(11):1159\u201370.","journal-title":"Hum Mol Genet"},{"issue":"10","key":"282_CR4","doi-asserted-by":"publisher","first-page":"1600","DOI":"10.1093\/hmg\/ddl081","volume":"15","author":"T Yamada","year":"2006","unstructured":"Yamada T, Ishihara H, Tamura A, Takahashi R, Yamaguchi S, Takei D, et al. WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells. Hum Mol Genet. 2006;15(10):1600\u20139.","journal-title":"Hum Mol Genet"},{"issue":"4","key":"282_CR5","doi-asserted-by":"publisher","first-page":"653","DOI":"10.1007\/s00125-009-1270-6","volume":"52","author":"M Akiyama","year":"2009","unstructured":"Akiyama M, Hatanaka M, Ohta Y, Ueda K, Yanai A, Uehara Y, et al. Increased insulin demand promotes while pioglitazone prevents pancreatic beta cell apoptosis in Wfs1 knockout mice. Diabetologia. 2009;52(4):653\u201363.","journal-title":"Diabetologia"},{"issue":"5","key":"282_CR6","doi-asserted-by":"publisher","first-page":"1303","DOI":"10.1016\/j.exer.2006.06.010","volume":"83","author":"H Yamamoto","year":"2006","unstructured":"Yamamoto H, Hofmann S, Hamasaki D, Yamamoto H, Kreczmanski P, Schmitz C, et al. Wolfram Syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey. Exp Eye Res. 2006;83(5):1303\u20136.","journal-title":"Exp Eye Res"},{"issue":"49","key":"282_CR7","doi-asserted-by":"publisher","first-page":"E5292","DOI":"10.1073\/pnas.1421055111","volume":"111","author":"S Lu","year":"2014","unstructured":"Lu S, Kanekura K, Hara T, Mahadevan J, Spears LD, Oslowski CM, et al. A calcium-dependent protease as a potential therapeutic target for Wolfram Syndrome. Proc Natl Acad Sci. 2014;111(49):E5292\u2013301.","journal-title":"Proc Natl Acad Sci"},{"issue":"7","key":"282_CR8","doi-asserted-by":"publisher","first-page":"e40604","DOI":"10.1371\/journal.pone.0040604","volume":"7","author":"T Hershey","year":"2012","unstructured":"Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, et al. Early brain vulnerability in Wolfram Syndrome. PLoS One. 2012;7(7):e40604.","journal-title":"PLoS One"},{"issue":"1","key":"282_CR9","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1186\/1750-1172-7-92","volume":"7","author":"KA Pickett","year":"2012","unstructured":"Pickett KA, Duncan RP, Hoekel J, Marshall D, Hershey T, Earhart G, et al. Early presentation of gait impairment in Wolfram Syndrome. Orphanet J Rare Dis. 2012;7(1):92.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"282_CR10","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1186\/1750-1172-8-64","volume":"8","author":"BA Marshall","year":"2013","unstructured":"Marshall BA, Permutt MA, Paciorkowski AR, Hoekel J, Karzon R, Wasson J, et al. Phenotypic characteristics of early Wolfram Syndrome. Orphanet J Rare Dis. 2013;8(1):64.","journal-title":"Orphanet J Rare Dis"},{"key":"282_CR11","doi-asserted-by":"publisher","first-page":"1458","DOI":"10.1016\/S0140-6736(95)92473-6","volume":"346","author":"TG Barrett","year":"1995","unstructured":"Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) Syndrome. Lancet. 1995;346:1458\u201363.","journal-title":"Lancet"},{"issue":"3","key":"282_CR12","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1002\/ana.22160","volume":"69","author":"A Chaussenot","year":"2011","unstructured":"Chaussenot A, Bannwarth S, Rouzier C, Vialettes B, Mkadem SA, Chabrol B, et al. Neurologic features and genotype-phenotype correlation in Wolfram Syndrome. Ann Neurol. 2011;69(3):501\u20138.","journal-title":"Ann Neurol"},{"issue":"1","key":"282_CR13","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1080\/13554790802613009","volume":"15","author":"T Nickl-Jockschat","year":"2008","unstructured":"Nickl-Jockschat T, Kunert J, Heroertz-Dahlmann B, Grozinger M. Psychiatric symptoms in a patient with Wolfram Syndrome caused by a combination of thalamic deficit and endocrinological pathologies. Neurocase. 2008;15(1):47\u201352.","journal-title":"Neurocase"},{"issue":"5","key":"282_CR14","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1086\/302609","volume":"65","author":"C Hardy","year":"1999","unstructured":"Hardy C, Khanim F, Torres R, Scott-Brown M, Seller A, Poulton J, et al. Clinical and molecular genetic analysis of 19 Wolfram Syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Am J Hum Genet. 1999;65(5):1279\u201390.","journal-title":"Am J Hum Genet"},{"key":"282_CR15","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1016\/j.jns.2010.08.044","volume":"300","author":"A Waschbisch","year":"2011","unstructured":"Waschbisch A, Volbers B, Struffert T, Hoyer J, Schwab S, Bardutzky J. Primary diagnosis of Wolfram Syndrome in an adult patient\u2013case report and description of a novel pathogenic mutation. Neurol Sci. 2011;300:191\u20133.","journal-title":"Neurol Sci"},{"issue":"4","key":"282_CR16","doi-asserted-by":"publisher","first-page":"1656","DOI":"10.1210\/jc.2002-030015","volume":"89","author":"R Medlej","year":"2004","unstructured":"Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, et al. Diabetes mellitus and optic atrophy: a study of Wolfram Syndrome in the Lebanese population. J Clin Endocrinol Metab. 2004;89(4):1656\u201361.","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"282_CR17","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1001\/archneur.1977.00500240047008","volume":"34","author":"S Lessell","year":"1977","unstructured":"Lessell S, Rosman NP. Juvenile diabetes mellitus and optic atrophy. Arch Neurol. 1977;34(12):759\u201365.","journal-title":"Arch Neurol"},{"key":"282_CR18","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1007\/BF02043585","volume":"3","author":"A Verri","year":"1982","unstructured":"Verri A, Borutti G, Sandrini G, Poloni M, Vailati A. A case of Wolfram Syndrome: neurological features. Ital J Neurol Sci. 1982;3:351\u20133.","journal-title":"Ital J Neurol Sci"},{"issue":"1","key":"282_CR19","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1186\/1750-1172-7-89","volume":"7","author":"C Nguyen","year":"2012","unstructured":"Nguyen C, Foster ER, Paciorkowski AR, Viehover A, Considine C, Bondurant A, et al. Reliability and validity of the Wolfram Unified Rating Scale (WURS). Orphanet J Rare Dis. 2012;7(1):89.","journal-title":"Orphanet J Rare Dis"},{"key":"282_CR20","volume-title":"Wechsler abbreviated scale of intelligence","author":"D Wechsler","year":"1999","unstructured":"Wechsler D. Wechsler abbreviated scale of intelligence. 3rd ed. Cleveland, OH: Psychological Corporation; 1999.","edition":"3"},{"key":"282_CR21","volume-title":"Woodcock-Johnson III technical manual","author":"KS McGrew","year":"2001","unstructured":"McGrew KS, Woodcock RW. Woodcock-Johnson III technical manual. Itasca, IL: Riverside Publishing; 2001."},{"key":"282_CR22","volume-title":"Wechsler intelligence scale for children","author":"D Wechsler","year":"1997","unstructured":"Wechsler D. Wechsler intelligence scale for children. 3rd ed. Cleveland, OH: Psychological Corporation; 1997.","edition":"3"},{"key":"282_CR23","volume-title":"Wechsler adult intelligence scale\u2013III","author":"D Wechsler","year":"1997","unstructured":"Wechsler D. Wechsler adult intelligence scale\u2013III. San Antonio, TX: Psychological Corporation; 1997."},{"key":"282_CR24","volume-title":"California verbal learning test\u2013children\u2019s version","author":"AJ Fridlund","year":"1994","unstructured":"Fridlund AJ, Delis DC. California verbal learning test\u2013children\u2019s version. San Antonio, TX: Psychological Corporation; 1994."},{"key":"282_CR25","volume-title":"California verbal learning test-II","author":"DC Delis","year":"2000","unstructured":"Delis DC, Kaplan E. California verbal learning test-II. San Antonio, TX: Psychological Corporation; 2000."},{"key":"282_CR26","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1023\/A:1025457300409","volume":"31","author":"CK Conners","year":"2003","unstructured":"Conners CK, Epstein JN, Angold A, Klaric J. Continuous performance test performance in a normative epidemiological sample. J Abnorm Child Psychol. 2003;31:555\u201362.","journal-title":"J Abnorm Child Psychol"},{"key":"282_CR27","volume-title":"The smell identification test administration manual","author":"RL Doty","year":"1995","unstructured":"Doty RL. The smell identification test administration manual. 3rd ed. Haddon Heights, NJ: Sensonics; 1995.","edition":"3"},{"key":"282_CR28","volume-title":"Wechsler test of adult reading: WTAR","author":"D Wechsler","year":"2001","unstructured":"Wechsler D. Wechsler test of adult reading: WTAR. San Antonio, TX: Psychological Corporation; 2001."},{"key":"282_CR29","volume-title":"Child symptom inventory-4 screening and norms manual","author":"KD Gadow","year":"2002","unstructured":"Gadow KD, Sprafkin J. Child symptom inventory-4 screening and norms manual. Stony Brook, NY: Checkmate Plus; 2002."},{"key":"282_CR30","volume-title":"Adult self-report-4 manual","author":"KD Gadow","year":"2004","unstructured":"Gadow KD, Sprafkin J, Weiss MD. Adult self-report-4 manual. Stony Brook, NY: Checkmate Plus; 2004."},{"key":"282_CR31","volume-title":"Youth\u2019s inventory-4 manual","author":"KD Gadow","year":"1999","unstructured":"Gadow KD, Sprafkin J. Youth\u2019s inventory-4 manual. Stony Brook, NY: Checkmate Plus; 1999."},{"key":"282_CR32","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/S1389-9457(99)00009-X","volume":"1","author":"RD Chervin","year":"2000","unstructured":"Chervin RD, Hedger K, Dillon JE, Pituch KJ. Pediatric sleep questionnaire (PSQ): validity and reliability of scales for sleep-disordered breathing, snoring, sleepiness, and behavioral problems. Sleep Med. 2000;1:21\u201332.","journal-title":"Sleep Med"},{"key":"282_CR33","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1016\/0165-1781(89)90047-4","volume":"28","author":"DJ Buysse","year":"1989","unstructured":"Buysse DJ, Reynolds CF, Monk TH, Berman SR, Kupfer DJ. The Pittsburgh sleep quality index: a new instrument psychiatric practice and research. Psychiatry Res. 1989;28:193\u2013213.","journal-title":"Psychiatry Res"},{"issue":"2","key":"282_CR34","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","volume":"42","author":"PA Harris","year":"2009","unstructured":"Harris PA, Taylor Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap)\u2013a metadata-driven methodology and workflow process for providing translational research informatict support. J Biomed Inform. 2009;42(2):377\u201381.","journal-title":"J Biomed Inform"},{"issue":"1","key":"282_CR35","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1002\/ajmg.b.20011","volume":"119B","author":"A Sequeira","year":"2003","unstructured":"Sequeira A, Kim C, Seguin M, Lesage A, Chawsky N, Desautels A, et al. Wolfram syndrome and suicide: evidence for a role of WFS1 in suicidal and impulsive behavior. Am J Med Genet B Neuropsychiatr Genet. 2003;119B(1):108\u201313.","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"8","key":"282_CR36","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1038\/sj.mp.4001681","volume":"10","author":"M Swift","year":"2005","unstructured":"Swift M, Swift RG. Wolframin mutations and hospitalization for psychiatric illness. Mol Psychiatry. 2005;10(8):799\u2013803.","journal-title":"Mol Psychiatry"},{"key":"282_CR37","first-page":"235","volume":"37","author":"A Okten","year":"1995","unstructured":"Okten A, Gedik Y, Demirci A, Mocan H, Erduran E, Aslan Y. Various clinical aspects of DIDMOAD (Wolfram) Syndrome. Turk J Pediatr. 1995;37:235\u201340.","journal-title":"Turk J Pediatr"},{"issue":"4","key":"282_CR38","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1007\/s004010050635","volume":"93","author":"D Gen\u00eds","year":"1997","unstructured":"Gen\u00eds D, Davalos A, Molins A, Ferrer I. Wolfram Syndrome: a neuropathological study. Acta Neuropathol. 1997;93(4):426\u20139.","journal-title":"Acta Neuropathol"},{"issue":"7","key":"282_CR39","doi-asserted-by":"publisher","first-page":"728","DOI":"10.2337\/diacare.17.7.728","volume":"17","author":"MJ Jackson","year":"1994","unstructured":"Jackson MJ, Bindoff LA, Weber K, Wilson JN, Ince P, Alberti KG, et al. Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Diabetes Care. 1994;17(7):728\u201333.","journal-title":"Diabetes Care"},{"issue":"1","key":"282_CR40","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1016\/j.autrev.2006.07.002","volume":"6","author":"RD Strous","year":"2006","unstructured":"Strous RD, Shoenfeld Y. To smell the immune system: olfaction, autoimmunity and brain involvement. Autoimmun Rev. 2006;6(1):54\u201360.","journal-title":"Autoimmun Rev"},{"issue":"2","key":"282_CR41","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1067\/mpd.2000.107186","volume":"137","author":"KA Matyka","year":"2000","unstructured":"Matyka KA, Crawford C, Wiggs L, Dunger DB, Stores G. Alterations in sleep physiology in young children with insulin-dependent diabetes mellitus: relationship to nocturnal hypoglycemia. J Pediatr. 2000;137(2):233\u20138.","journal-title":"J Pediatr"},{"issue":"1","key":"282_CR42","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1177\/1099800410395569","volume":"14","author":"CL Estrada","year":"2012","unstructured":"Estrada CL, Danielson KK, Drum ML, Lipton RB. Insufficient sleep in young patients with diabetes and their families. Biol Res Nurs. 2012;14(1):48\u201354.","journal-title":"Biol Res Nurs"},{"issue":"1","key":"282_CR43","doi-asserted-by":"crossref","first-page":"81","DOI":"10.5665\/sleep.1590","volume":"35","author":"MM Perfect","year":"2012","unstructured":"Perfect MM, Patel PG, Scott RE, Wheeler MD, Patel C, Griffin K, et al. Sleep, glucose, and daytime functioning in youth with type 1 diabetes. Sleep. 2012;35(1):81\u20138.","journal-title":"Sleep"},{"issue":"12","key":"282_CR44","doi-asserted-by":"publisher","first-page":"1490","DOI":"10.1016\/j.sleep.2014.08.011","volume":"15","author":"NC Caruso","year":"2014","unstructured":"Caruso NC, Radovanovic B, Kennedy D, Couper J, Kohler M, Kavanagh PS, et al. Sleep, executive functioning and behaviour in children and adolescents with type 1 diabetes. Sleep Med. 2014;15(12):1490\u20139.","journal-title":"Sleep Med"},{"key":"282_CR45","doi-asserted-by":"crossref","unstructured":"Colavito V, Tesoriero C, Wirtu AT, Grassi-Zucconi G, Bentivoglio M. Limbic thalamus and state-dependent behavior: the paraventricular nucleus of the thalamic midline as a node in circadian timing and sleep\/wake-regulatory networks. Neurosci Biobehav Rev. 2014. http:\/\/www.sciencedirect.com\/science\/article\/pii\/S014976341400325X.","DOI":"10.1016\/j.neubiorev.2014.11.021"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-015-0282-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13023-015-0282-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-015-0282-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-015-0282-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T14:36:32Z","timestamp":1630593392000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-015-0282-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,30]]},"references-count":45,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["282"],"URL":"https:\/\/doi.org\/10.1186\/s13023-015-0282-1","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,30]]},"assertion":[{"value":"19 February 2015","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 May 2015","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 May 2015","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"66"}}