{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T01:46:54Z","timestamp":1791424014857,"version":"4.3.3"},"reference-count":42,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":3143,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1996,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Wolfram syndrome was originally described as a combination of familial juvenile\u2010onset diabetes mellitus and optic atrophy. Other neurological features subsequently emerged, and \u201cDIDMOAD\u201d (<jats:italic>d<\/jats:italic>iabetes <jats:italic>i<\/jats:italic>nsipidus, <jats:italic>d<\/jats:italic>iabetes <jats:italic>m<\/jats:italic>ellitus, <jats:italic>o<\/jats:italic>ptic <jats:italic>a<\/jats:italic>trophy, and <jats:italic>d<\/jats:italic>eafness) became a commonly accepted acronym. Here, we describe 4 further cases from 2 families, in whom there occurred previously unrecognized neurological features, central apnea and neurogenic upper airway collapse, together precipitating primary respiratory failure (fatal in 1 case), startle myoclonus (in 2 unrelated cases), axial rigidity, and Parinaud's syndrome. Magnetic resonance images revealed striking brainstem atrophy affecting, in particular, the pons and midbrain. The mitochondrial DNA from 3 cases (and relatives) showed no evidence of any of the previously reported abnormalities. These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.<\/jats:p>","DOI":"10.1002\/ana.410390312","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:33:15Z","timestamp":1104597195000},"page":"352-360","source":"Crossref","is-referenced-by-count":71,"title":["Wolfram syndrome: Hereditary diabetes mellitus with brainstem and optic atrophy"],"prefix":"10.1002","volume":"39","author":[{"given":"Neil J.","family":"Scolding","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen F.","family":"Kellar\u2010Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Shneerson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nagui","family":"Antount","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"715","article-title":"Diabetes mellitus and simple optic atrophy among siblings: report of four cases","volume":"13","author":"Wolfram D","year":"1938","journal-title":"Proc Staff Meet Mayo 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