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

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, pos...