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Article

Adult onset Niemann‐Pick type C disease: A clinical, neuroimaging and molecular genetic study

21 Aug 2003

Abstract excerpt

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 perfusional, positron emission tomography metabolic, conventional magnetic resonance imaging, and magnetic resonance spectroscopy...

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PMID: 14639697
DOI: 10.1002/mds.10541

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