title: Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study.
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 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.
authors.affiliation: Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Battisti
authors.forename: Patrizla
authors.initials: P
authors.lastname: Tarugi
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Nicola
authors.initials: N
authors.lastname: De Stefano
authors.forename: Angelo
authors.initials: A
authors.lastname: Vattimo
authors.forename: Francesea
authors.initials: F
authors.lastname: Chierichetti
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Calandra
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D000328:Adult; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000098:blood supply / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics*; D003072:Cognition Disorders / Q000175:diagnosis; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009483:Neuropsychological Tests; D000077296:Niemann-Pick C1 Protein; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction / Q000379:methods; D012720:Severity of Illness Index; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein