Journal
MOVEMENT DISORDERS
Volume 18, Issue 11, Pages 1405-1409Publisher
WILEY
DOI: 10.1002/mds.10541
Keywords
NPC1; adult-onset; neuroimaging studies
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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 findings suggested a pathophysiological correlation with phenotype expression. This case expands the clinical and genetic spectrum of the rare adult-onset NPC disease phenotype (C) 2003 Movement Disorder Society.
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