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
2003
18
11
1405
1409
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]
C., Battisti; Tarugi, Patrizia Maria; Mt, Dotti; N., De Stefano; A., Vattimo; F., Chierichetti; CALANDRA BUONAURA, Sebastiano; A., Federico
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/304430
Citazioni
  • ???jsp.display-item.citation.pmc??? 10
  • Scopus 38
  • ???jsp.display-item.citation.isi??? 30
social impact