{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T11:18:19Z","timestamp":1777288699997,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,2,14]],"date-time":"2012-02-14T00:00:00Z","timestamp":1329177600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:p><jats:bold>Background and purpose:\u2002<\/jats:bold> Niemann\u2013Pick disease type C (NPC) is a progressive neurovisceral disorder associated with dystonia, ataxia and a characteristic gaze palsy. Neuropathological studies have demonstrated brainstem atrophy associated with neuronal inclusions and loss, and neurofibrillary tangles, although it is not known whether this pathology can be detected <jats:italic>in vivo<\/jats:italic> or how these changes relate to illness variables, particularly ocular\u2010motor changes. Our aim was to utilize a method for brainstem atrophy, validated in progressive supranuclear palsy (PSP), in a group of adult patients with NPC, and explore its relationship to illness variables and ocular\u2010motor functioning.<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> We calculated the midbrain and pontine area, and pontine\u2010to\u2010midbrain ratio (PMR) from midsagittal images of 10 adult patients with NPC and 27 age\u2010 and gender\u2010matched controls. Measures were correlated with illness variables, and measures of horizontal saccadic functioning.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> Pontine\u2010to\u2010midbrain ratio was 14% higher in the NPC group, but this difference was not significant. However, PMR showed a significant positive correlation with duration of illness and a measure of illness severity. Furthermore, PMR was significantly negatively correlated with saccadic peak velocity and gain, and self\u2010paced saccadic performance.<\/jats:p><jats:p><jats:bold>Conclusions:\u2002<\/jats:bold> Pontine\u2010to\u2010midbrain ratio was increased in adult patients with NPC compared to controls, although not to the same degree as previously described in PSP, which also presents with significant gaze palsy. These changes were driven predominantly by progressive midbrain atrophy. The strong correlation with illness and ocular\u2010motor variables suggests that it may be a useful marker for illness progression in NPC.<\/jats:p>","DOI":"10.1111\/j.1468-1331.2011.03545.x","type":"journal-article","created":{"date-parts":[[2012,2,14]],"date-time":"2012-02-14T12:17:02Z","timestamp":1329221822000},"page":"462-467","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Pontine\u2010to\u2010midbrain ratio indexes ocular\u2010motor function and illness stage in adult Niemann\u2013Pick disease type C"],"prefix":"10.1111","volume":"19","author":[{"given":"M.","family":"Walterfang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. D.","family":"Macfarlane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. C. 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