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Adult onset Niemann-Pick type C disease and psychosis: Literature review

✍ Scribed by Maubert, A. (author);Hanon, C. (author);Metton, J. P. (author)


Book ID
122857177
Publisher
Elsevier Masson SAS
Year
2013
Tongue
French
Weight
368 KB
Volume
39
Category
Article
ISSN
0013-7006

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## Abstract We report on a patient with adult‐onset Niemann‐Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the __NPC1__ gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography