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

✍ Scribed by Carla Battisti; Patrizla Tarugi; Maria Teresa Dotti; Nicola De Stefano; Angelo Vattimo; Francesea Chierichetti; Sebastiano Calandra; Antonio Federico

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 238 KB
• Volume: 18
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.10541

✦ Synopsis

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. © 2003 Movement Disorder Society