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

• Published in: Movement disorders Vol. 18; no. 11; pp. 1405 - 1409
• Main Authors: Battisti, Carla, Tarugi, Patrizla, Dotti, Maria Teresa, De Stefano, Nicola, Vattimo, Angelo, Chierichetti, Francesea, Calandra, Sebastiano, Federico, Antonio
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.11.2003; Wiley
• Subjects: Adult; adult-onset; Atrophy - pathology; Biological and medical sciences; Brain - blood supply; Brain - pathology; Carrier Proteins - genetics; Cognition Disorders - diagnosis; Diagnosis, Differential; Errors of metabolism; Fatal Outcome; Humans; Lipids (lysosomal enzyme disorders, storage diseases); Male; Medical sciences; Membrane Glycoproteins - genetics; Metabolic diseases; neuroimaging studies; Neuropsychological Tests; Niemann-Pick Diseases - diagnosis; Niemann-Pick Diseases - genetics; Niemann-Pick Diseases - metabolism; NPC1; Polymerase Chain Reaction - methods; Severity of Illness Index; Tomography, Emission-Computed, Single-Photon; Radionuclide study; Human; Nervous system diseases; Central nervous system; Metabolic diseases; Exploration; Enzymopathy; Nuclear magnetic resonance imaging; Photon; Cerebral disorder; Genetic disease; Encephalon; Case study; Age of onset; Central nervous system disease; Medical imagery; Adult; Genetics; Niemann Pick disease; Molecular biology; Lipoidosis; Positron; Emission tomography
• ISSN: 0885-3185; 1531-8257
• DOI: 10.1002/mds.10541

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. © 2003 Movement Disorder Society