Battisti Carla, Tarugi Patrizla, Dotti Maria Teresa, De Stefano Nicola, Vattimo Angelo, Chierichetti Francesea, Calandra Sebastiano, Federico Antonio
Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy.
Mov Disord. 2003 Nov;18(11):1405-9. 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.
我们报告了一例成年起病的尼曼-匹克C型（NPC）病患者，其NPC1基因携带P1007和I1061T突变，表现为明显的精神改变，随后出现肌张力障碍和认知障碍。荧光素染色、单光子发射计算机断层扫描灌注成像、正电子发射断层扫描代谢成像、传统磁共振成像和磁共振波谱分析结果提示了与表型表达的病理生理相关性。该病例扩展了罕见的成年起病NPC病表型的临床和基因谱。
