Presentation of Niemann-Pick type C disease with psychiatric disturbance in an adult;Troubles psychiatriques révélateurs d'une maladie de Niemann-Pick de type C à l'âge adulte

Revue Neurologique

Volumn 161, Issue 3, 2005, Pages 318-322

  Tyvaert, L ^a   Stojkovic, T ^a   Cuisset, J M ^a   Vanier, M T ^b,c   Turpin, J C ^d   De Seze J ^a   Vermersch, P ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c CENTRE HOSPITALIER LYON SUD   (France)

^d HÔPITAL MAISON BLANCHE   (France)

Author keywords

Adult onset; Niemann Pick type C disease; Psychiatric disorders

Indexed keywords

AMINOTRANSFERASE; FILIPIN; LOW DENSITY LIPOPROTEIN; NEUROLEPTIC AGENT;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLUM DISEASE; CHOLESTEROL ESTERIFICATION; COGNITIVE DEFECT; DYSARTHRIA; ECHOGRAPHY; FEMALE; GAIT DISORDER; GAZE PARALYSIS; GENE; GENETIC COMPLEMENTATION; HEPATOSPLENOMEGALY; HUMAN; HYPERCHOLESTEROLEMIA; LIPIDOSIS; MENTAL DISEASE; NEUROIMAGING; NIEMANN PICK DISEASE; NPC1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PSYCHOSIS; SCHIZOPHRENIA; SKIN FIBROBLAST; SPLENOMEGALY;

EID: 16844362076     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0035-3787(05)85038-6     Document Type: Article

References (16)

1. BATTISTI C, TARUGI P, DOTTI MT et al. (2003). Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study. Mov Disord, 18: 1405-1409.
2. CAMPO JV, STOWE R, SLOMKA G, BYLER D, GRACIOUS B. (1998) Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C. Dev Med Child Neurol, 40: 126-129.
3. FINK JK, FILLING-KATZ MR, SOKOL J et al. (1989). Clinical spectrum of Niemann-Pick disease type C. Neurology, 39: 1040-1049.
4. HIGGINS JJ, PATTERSON MC, DAMBROSIA JM et al. (1992). A clinical staging classification for type C Niemann-Pick disease. Neurology, 42: 2286-2290.
5. JOSEPHS KA, VAN GERPEN MW, VAN GERPEN JA. (2003). Adult onset Niemann-Pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry, 74: 528-529.
6. LOSSOS A, SCHLESINGER I, OKON E et al. (1997). Adult-onset Niemann-Pick type C disease. Clinical, biochemical, and genetic study. Arch Neurol, 54: 1536-1541.
7. PATTERSON MC, VANIER MT, SUZUKI K et al. (2001) Niemann-Pick disease type C: a lipid trafficking disorder. In: The metabolic and molecular bases of inherited disease. Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. Mc Graw Hill eds. p. 3611-3634.
8. PATTERSON MC. (2003). A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C. Neurologist, 9: 301-310.
9. SHULMAN LM, DAVID NJ, WEINER WJ. (1995). Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C. Neurology, 45: 1739-1743.
10. TURPIN JC, BAUMANN N. (2003). Manifestations psychiatriques ou cognitives inaugurales dans les neurolipidoses de l'adulte. Rev Neurol (Paris), 159: 637-647.
11. UC EY, WENGER DA, JANKOVIC J. (2000). Niemann-Pick disease type C: two cases and an update. Mov Disord, 15: 1199-1203.
12. VANIER MT. (2000) Maladie de Niemann-Pick type C. In: Progrès en Pédiatrie Vol. 6: Neuropédiatrie. Evrard P, Tardieu M. Doin ed. Paris, p. 81-93.
13. VANIER MT, RODRIGUEZ-LAFRASSE C, ROUSSON R et al. (1991) Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity. Dev Neurosci, 13: 307-314.
14. VANIER MT, RODRIGUEZ-LAFRASSE C, ROUSSON R et al. (1991 a). Niemann-Pick Disease: biochemical aspects and phenotypic heterogeneity. Dev Neurosci, 13: 307-314.
15. VANIER MT, RODRIGUEZ-LAFRASSE C, ROUSSON R et al. (1991b). Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta, 1096: 328-337.
16. VANIER MT, MILLAT G. (2003). Niemann-Pick disease type C. Clin Genet, 64: 269-281.