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
Adult-onset Niemann-Pick type C disease: A clinical, neuroimaging, and molecular genetic study / C., Battisti; Tarugi, Patrizia Maria; Mt, Dotti; N., De Stefano; A., Vattimo; F., Chierichetti; CALANDRA BUONAURA, Sebastiano; A., Federico. - In: MOVEMENT DISORDERS. - ISSN 0885-3185. - STAMPA. - 18:11(2003), pp. 1405-1409. [10.1002/mds.10541]
Adult-onset Niemann-Pick type C disease: A clinical, neuroimaging, and molecular genetic study
TARUGI, Patrizia Maria;CALANDRA BUONAURA, Sebastiano;
2003
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
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