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|Title:||[Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C].|
|Citation:||KLIN MONBL AUGENHEILKD, 1999, 214 (1), pp. 50-52|
|Abstract:||Eye movement abnormalities in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, abetalipoproteinemia and Wilson's disease. The eye movement abnormalities in our two patients were suggestive of Niemann Pick disease type C, characterized by initial loss of voluntary vertical eye movements and subsequent loss of horizontal eye movements, with preservation of the vestibulo-ocular response. The characteristics of eye movements in storage disorders are different. In Gaucher's disease a progressive horizontal gaze palsy, in abetalipoproteinemia a particular type of internuclear ophthalmoplegia with nystagmus of the adducting eye and in Wilson's disease slowing of saccades may be observed.|
|Appears in Collections:||Published Articles, Dept. of Cardiovascular Sciences|
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