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CNS Drugs
Erschienen in: CNS Drugs 2/2019

01.02.2019 | Review Article

Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management

verfasst von: Thomas Rego, Sarah Farrand, Anita M. Y. Goh, Dhamidhu Eratne, Wendy Kelso, Simone Mangelsdorf, Dennis Velakoulis, Mark Walterfang

Erschienen in: CNS Drugs | Ausgabe 2/2019

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Abstract

Niemann-Pick disease type C (NPC) is a lysosomal storage disorder that presents with a spectrum of clinical manifestations from infancy and childhood or in early or mid-adulthood. Progressive neurological symptoms including ataxia, dystonia and vertical gaze palsy are a hallmark of the disease, and psychiatric symptoms such as psychosis and mood disorders are common. These latter symptoms often present early in the course of NPC and thus these patients are often diagnosed with a major psychotic or affective disorder before neurological and cognitive signs present and the diagnosis is revised. The commonalities and characteristics of psychotic symptoms in both NPC and schizophrenia may share neuronal pathways and mechanisms and provide potential targets for research in both disorders. The neurobiology of NPC and its relationship to the pattern of neuropsychiatric and cognitive symptoms is described in this review. A number of neurobiological models are proposed as mechanisms by which NPC causes psychiatric and cognitive symptoms, informed from models proposed in schizophrenia and other metabolic disorders. There are a number of symptomatic and illness-modifying treatments for NPC currently available. The current evidence is discussed; focussing on two medications which have shown promise, miglustat and hydroxypropyl-β-cyclodextrin.
Literatur
1.
Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, et al. The adult form of Niemann-Pick disease type C. Brain. 2007;130:120–33.CrossRefPubMed
2.
Wassif CA, Cross JL, Iben J, Sanchez-pulido L, Platt FM, Ory DS, et al. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1 predicted by analysis of massively parallel sequencing data sets. Genet Med. 2016;18:41–8.CrossRefPubMed
3.
4.
Vanier MT. Complex lipid trafficking in Niemann-Pick disease type C. J Inherit Metab Dis. 2014;38:187–99.CrossRefPubMed
5.
Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106:330–44.CrossRefPubMed
6.
7.
8.
Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013;8:1–10.CrossRef
9.
Imrie J, Vijayaraghaven S, Whitehouse C, Harris S, Heptinstall L, Church H, et al. Niemann-Pick disease type C in adults. J Inherit Metab Dis. 2002;25:491–500.CrossRefPubMed
10.
Imrie J, Heptinstall L, Knight S, Strong K. Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. BMC Neurol. 2015;15:257.CrossRefPubMedPubMedCentral
11.
Jahnova H, Dvorakova L, Vlaskova H, Hulkova H, Poupetova H, Hrebicek M, et al. Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. Orphanet J Rare Dis. 2014;9:140.CrossRefPubMedPubMedCentral
12.
Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D. Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. J Inherit Metab Dis. 2007;30:631–41.CrossRefPubMed
13.
Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007;6:765–72.CrossRefPubMed
14.
15.
Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, et al. Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C. Neurology. 2012;78:1560–7.CrossRefPubMed
16.
17.
Bonnot O, Klünemann HH, Sedel F, Tordjman S, Cohen D, Walterfang M. Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review. Orphanet J Rare Dis. 2014;9:65.CrossRefPubMedPubMedCentral
18.
Bowman EA, Walterfang M, Abel L, Desmond P, Fahey M, Velakoulis D. Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat. J Neurol. 2015;262:2106–14.CrossRefPubMed
19.
20.
21.
Arenas F, Garcia-Ruiz C, Fernandez-Checa JC. Intracellular cholesterol trafficking and impact in neurodegeneration. Front Mol Neurosci. 2017;10:382.CrossRefPubMedPubMedCentral
22.
Benussi A, Cotelli MS, Padovani A, Borroni B. Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC. F1000Res. 2018;7:194.CrossRefPubMedPubMedCentral
23.
Love S, Bridges LR, Case CP. Neurofibrillary tangles in Niemann-Pick disease type C. Brain. 1995;118:119–29.CrossRefPubMed
24.
Suzuki K, Parker CC, Pentchev PG, Katz D, Ghetti B, D’Agostino AN, et al. Neurofibrillary tangles in Niemann-Pick disease type C. Acta Neuropathol. 1995;89:227–38.CrossRefPubMed
25.
Hung YH, Faux NG, Killilea DW, Yanjanin N, Firnkes S, Volitakis I, et al. Altered transition metal homeostasis in Niemann-Pick disease, type C1. Metallomics. 2014;6:542–53.CrossRefPubMed
26.
Fu R, Yanjanin NM, Elrick MJ, Ware C, Lieberman AP, Porter FD. Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1. Am J Med Genet Part A. 2012;158A:2775–80.CrossRefPubMed
27.
28.
Malnar M, Hecimovic S, Mattsson N, Zetterberg H. Bidirectional links between Alzheimer’s disease and Niemann-Pick type C disease. Neurobiol Dis. 2014;72:37–47.CrossRefPubMed
29.
Auer IA, Schmidt ML, Lee VM-Y, Curry B, Suzuki K, Shin R-W, et al. Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer’s disease. Acta Neuropathol. 1995;90:547–51.CrossRefPubMed
30.
Bergeron D, Poulin S, Laforce R. Cognition and anatomy of adult Niemann-Pick disease type C: insights for the Alzheimer field. Cogn Neuropsychol. 2018;35(3–4):209–22.CrossRefPubMed
31.
Bu B, Klunemann H, Suzuki K, Li J, Bird T, Jin LW, et al. Niemann-Pick disease type C yields possible clue for why cerebellar neurons do not form neurofibrillary tangles. Neurobiol Dis. 2002;11(2):285–97.CrossRefPubMed
32.
Baudry M, Yao Y, Simmons D, Liu J, Bi X. Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astroglia. Exp Neurol. 2003;184:887–903.CrossRefPubMed
33.
German DC, Liang C-L, Song T, Yazdani U, Xie C, Dietschy JM. Neurodegeneration in the Niemann-Pick C mouse: glial involvement. Neuroscience. 2002;109:437–50.CrossRefPubMed
34.
35.
Platt N, Speak AO, Colaco A, Gray J, Smith DA, Williams IM, et al. Immune dysfunction in Niemann-Pick disease type C. J Neurochem. 2016;136:74–80.CrossRefPubMed
36.
37.
Takikita S, Fukuda T, Mohri I, Yagi T, Suzuki K. Perturbed myelination process of premyelinating oligodendrocyte in Niemann-Pick type C mouse. J Neuropathol Exp Neurol. 2004;63:660–73.CrossRefPubMed
38.
Goodrum JF, Pentchev PG. Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice. J Neurosci Res. 1998;49:389–92.CrossRef
39.
Yan X, Yadav R, Gao M, Weng H-R. Interleukin-1 beta enhances endocytosis of glial glutamate transporters in the spinal dorsal horn through activating protein kinase C. Glia. 2014;62:1093–109.CrossRefPubMedPubMedCentral
40.
Pacheco CD, Kunkel R, Lieberman AP. Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects. Hum Mol Genet. 2007;16:1495–503.CrossRefPubMed
41.
Walkley SU, Baker HJ, Rattazzi MC, Haskins ME, Wu J-Y. Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement. J Neurol Sci. 1991;104:1–8.CrossRefPubMed
42.
Zervas M, Dobrenis K, Walkley SU. Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. J Neuropathol Exp Neurol. 2001;60:49–64.CrossRefPubMed
43.
Yamada A, Saji M, Ukita Y, Shinoda Y, Taniguchi M, Higaki K, et al. Progressive neuronal loss in the ventral posterior lateral and medial nuclei of thalamus in Niemann-Pick disease type C mouse brain. Brain Dev. 2001;23:288–97.CrossRefPubMed
44.
Lopez ME, Klein AD, Dimbil UJ, Scott MP. Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder. J Neurosci. 2011;31:4367–78.CrossRefPubMedPubMedCentral
45.
Pressey SNR, Smith DA, Wong AMS, Platt FM, Cooper JD. Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice. Neurobiol Dis. 2012;45:1086–100.CrossRefPubMedPubMedCentral
46.
Trouard TP, Heidenreich RA, Seeger JF, Erickson RP. Diffusion tensor imaging in Niemann-Pick Type C disease. Pediatr Neurol. 2005;33(5):325–30.CrossRefPubMed
47.
Walterfang M, Fahey M, Desmond P, Wood A, Seal ML, Steward C, et al. White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study. Neurology. 2010;75:49–56.CrossRefPubMed
48.
Lee R, Apkarian K, Jung ES, Yanjanin N, Yoshida S, Mori S, et al. Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1. Pediatr Neurol. 2014;51(669–674):e5.
49.
Masingue M, Adanyeguh I, Nadjar Y, Sedel F, Galanaud D, Mochel F. Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment. Orphanet J Rare Dis. 2017;12:22.CrossRefPubMedPubMedCentral
50.
Walterfang M, Macfarlane MD, Looi JCL, Abel L, Bowman E, Fahey MC, et al. Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C. Eur J Neurol. 2012;19:462–7.CrossRefPubMed
51.
Walterfang M, Patenaude B, Abel LA, Kluenemann H, Bowman EA, Fahey MC, et al. Subcortical volumetric reductions in adult niemann-pick disease type C: a cross-sectional study. Am J Neuroradiol. 2013;34:1334–40.CrossRefPubMedPubMedCentral
52.
Walterfang M, Bonnot O, Mocellin R, Velakoulis D. The neuropsychiatry of inborn errors of metabolism. J Inherit Metab Dis. 2013;36(4):687–702.CrossRefPubMed
53.
Lau MW, Lee RW, Miyamoto R, Jung ES, Yanjanin Farhat N, Yoshida S, et al. Role of diffusion tensor imaging in prognostication and treatment monitoring in Niemann-Pick disease type C1. Diseases. 2016;4(3):29.CrossRefPubMedCentral
54.
Walterfang M, Abel LA, Desmond P, Fahey MC, Bowman EA, Velakoulis D. Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C. Mol Genet Metab. 2013;108:85–9.CrossRefPubMed
55.
Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009;98:152–65.CrossRefPubMed
56.
Shulman LM, David NJ, Weiner WJ. Psychosis as the initial manifestation of adult-onset Niernann-Pick disease type C. Neurology. 1996;45:1739–43.CrossRef
57.
Campo JV, Robert S, Greg S, Debra B, Barbara G. Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C. Dev Med Child Neurol. 2008;40:126–9.CrossRef
58.
Josephs KA, Van Gerpen MW, Van Gerpen JA. Adult onset Niemann-Pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry. 2003;74:528–9.CrossRefPubMedPubMedCentral
59.
Sandu S, Jackowski-Dohrmann S, Ladner A, Haberhausen M, Bachmann C. Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. Eur Child Adolesc Psychiatry. 2009;18:583–5.CrossRefPubMed
60.
Walterfang M, Fietz M, Abel L, Bowman E, Mocellin R, Velakoulis D. Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C. J Inherit Metab Dis. 2009;32:221–6.CrossRef
61.
Walterfang M, Kornberg A, Adams S, Fietz M, Velakoulis D. Post-ictal psychosis in adolescent Niemann-Pick disease type C. J Inherit Metab Dis. 2010;33:63–5.CrossRef
62.
Wouters S, De Meirleir L, Campforts E, Lampo A. Psychosis in an adolescent girl: a common manifestation in Niemann-Pick type C disease. Child Adolesc Psychiatry Ment Health. 2014;8:20.CrossRefPubMedPubMedCentral
63.
Maubert A, Hanon C, Metton J. Niemann-Pick type C disease and psychosis: two siblings. Encephale. 2015;41:238–43.CrossRefPubMed
64.
Rebelo J, Oliveira M, Nunes P. Psychiatric manifestations of Niemann-Pick type C disease—two case reports. Eur Psychiatry. 2016;33:S466.CrossRef
65.
Szakszon K, Szegedi I, Magyar Á, Oláh É, Andrejkovics M, Balla P, et al. Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient. Eur J Paediatr Neurol. 2014;18:75–8.CrossRefPubMed
66.
Koens LH, Kuiper A, Coenen MA, Elting JWJ, de Vries JJ, Engelen M, et al. Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. Orphanet J Rare Dis. 2016;11:121.CrossRefPubMedPubMedCentral
67.
Kawazoe T, Yamamoto T, Narita A, Ohno K, Adachi K, Nanba E, et al. Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report. BMC Neurol. 2018;18:117.CrossRefPubMedPubMedCentral
68.
Baumgartner A, Nia S, Geiblinger S, Baumgartner C. Psychiatric manifestation of adult form of Niemann-Pick type C. A case report. J Neurol Sci. 2013;333:e705.CrossRef
69.
Maubert A, Hanon C, Sedel F. Psychiatric disorders in adult form of Niemann-Pick disease type C. Encephale. 2016;42:208–13.CrossRefPubMed
70.
Bonnot O, Gama CS, Mengel E, Pineda M, Vanier MT, Watson L, et al. Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): findings from the International NPC Registry. World J Biol Psychiatry. 2017;9:1–10.
71.
Walterfang M, Bonnot O, Mocellin R, Velakoulis D. The neuropsychiatry of inborn errors of metabolism. J Inherit Metab Dis. 2013;36:687–702.CrossRefPubMed
72.
Sullivan D, Walterfang M, Velakoulis D. Bipolar disorder and Niemann-Pick disease type C. Am J Psychiatry. 2005;162:1021–2.CrossRefPubMed
73.
74.
Lossos A, Schlesinger I, Okon E, Al E. Adult-onset niemann-pick type c disease: clinical, biochemical, and genetic study. Arch Neurol. 1997;54:1536–41.CrossRefPubMed
75.
Abel LA, Walterfang M, Fietz M, Bowman EA, Velakoulis D. Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits. Neurology. 2009;72:1083–6.CrossRefPubMed
76.
Chien Y-H, Lee N-C, Tsai L-K, Huang A-C, Peng S-F, Chen S-J, et al. Treatment of Niemann-Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year. J Inherit Metab Dis. 2007;30:826.CrossRefPubMed
77.
Chien YH, Peng SF, Yang CC, Lee NC, Tsai LK, Huang AC, et al. Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C. J Inherit Metab Dis. 2013;36:129–37.CrossRefPubMed
78.
Johnen A, Pawlowski M, Duning T. Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer’s dementia. Orphanet J Rare Dis. 2018;13(1):91.CrossRefPubMedPubMedCentral
79.
Walterfang M, Siu R, Velakoulis D. The NUCOG: validity and reliability of a brief cognitive screening tool in neuropsychiatric patients. Aust N Z J Psychiatry. 2006;40:995–1002.CrossRefPubMed
80.
Hinton V, Vecchio D, Prady H, Wraith E, Patterson M, York N, et al. The cognitive phenotype of Niemann-Pick type C (NPC): neuropsychological characteristics of patients at baseline in a clinical trial with oral miglustat [abstract no. OPL120]. J Neurol Sci. 2005;238:S77.
81.
Klarner B, Klünemann HH, Lürding R, Aslanidis C, Rupprecht R. Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations. J Inherit Metab Dis. 2007;30:60–7.CrossRefPubMed
82.
Heitz C, Epelbaum S, Nadjar Y. Cognitive impairment profile in adult patients with Niemann pick type C disease. Orphanet J Rare Dis. 2017;12(1):166.CrossRefPubMedPubMedCentral
83.
Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, et al. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease. Curr Med Res Opin. 2017;33:877–90.CrossRefPubMed
84.
85.
Shulman LM, Lang AE, Jankovic J, David NJ, Weiner WJ. What is it? Case 1, 1995: psychosis, dementia, chorea, ataxia, and supranuclear gaze dysfunction. Mov Disord. 1995;10:257–62.CrossRefPubMed
86.
Salmon DP. Disorders of memory in Alzheimer’s disease. In: Cermak LS, editor. Handbook of neuropsychology: memory and its disorders, vol. 2. 2nd ed. Amsterdam: Elsevier Science Publishers B.V.; 2000. p. 155–95.
87.
Dardis A, Zampieri S, Canterini S, Newell KL, Stuani C, Murrell JR, et al. Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in Niemann-Pick disease type C. Acta Neuropathol Commun. 2016;4:52.CrossRefPubMedPubMedCentral
88.
Zhang M, Hallows JL, Wang X, Bu B, Wang W, Vincent I. Mitogen-activated protein kinase activity may not be necessary for the neuropathology of Niemann-Pick type C mice. J Neurochem. 2008;107:814–22.CrossRefPubMed
89.
Velakoulis D, Walterfang M, Mocellin R, Pantelis C, McLean C. Frontotemporal dementia presenting as schizophrenia-like psychosis in young people: clinicopathological series and review of cases. Br J Psychiatry. 2009;194:298–305.CrossRefPubMed
90.
Cooper JJ, Ovsiew F. The relationship between schizophrenia and frontotemporal dementia. J Geriatr Psychiatry Neurol. 2013;26:131–7.CrossRefPubMed
91.
Harvey PD. Cognitive impairment in schizophrenia: characteristics, assessment and treatment. Cambridge: Cambridge University Press; 2013.CrossRef
92.
O’Carroll R. Cognitive impairment in schizophrenia. Adv Psychiatr Treat. 2000;6:161–8.CrossRef
93.
94.
Evans WRH, Hendriksz CJ. Niemann-Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment. BJPsych Bull. 2017;41:109–14.CrossRefPubMedPubMedCentral
95.
96.
Walterfang M, Mocellin R, Velakoulis D. The neuropsychiatry of neuroendocrine and neurometabolic disorders. In: Sadock BJ, Sadock VA, Ruiz P, editors. Kaplan and Sadock’s comprehensive psychiatry. 11th ed. Philadelphia: Lippincott; 2009.
97.
Kessler RC, Berglund P, Demler O, Jin R, Merikangas KR, Walters EE. Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the national comorbidity survey replication. Arch Gen Psychiatry. 2005;62:593–602.CrossRefPubMed
98.
Gogtay N, Giedd JN, Lusk L, Hayashi KM, Greenstein D, Vaituzis AC, et al. Dynamic mapping of human cortical development during childhood through early adulthood. Proc Natl Acad Sci USA. 2004;101:8174–9.CrossRefPubMedPubMedCentral
99.
Sowell ER, Peterson BS, Thompson PM, Welcome SE, Henkenius AL, Toga AW. Mapping cortical change across the human life span. Nat Neurosci. 2003;6:309–15.CrossRefPubMed
100.
Paus T, Zijdenbos A, Worsley K, Collins DL, Blumenthal J, Giedd JN, et al. Structural maturation of neural pathways in children and adolescents: in vivo study. Science. 1999;283:1908–11.CrossRefPubMed
101.
Walterfang M, Wood SJ, Velakoulis D, Copolov D, Pantelis C. Diseases of white matter and schizophrenia-like psychosis. Aust N Z J Psychiatry. 2005;39:746–56.CrossRefPubMed
102.
Friston K, Frith C. Schizophrenia: a disconnection syndrome? Clin Neurosci. 1995;3(2):89–97.PubMed
103.
Wernicke C (1906) Grundrisse der Psychiatrie. Leipzig: Thieme.
104.
Bleuler E, [Transl. Zinkin J]. Dementia praecox, or the group of schiozophrenias. New York: International Universities Press; 1950.
105.
Walterfang M, Wood SJ, Velakoulis D, Pantelis C. Neuropathological, neurogenetic and neuroimaging evidence for white matter pathology in schizophrenia. Neurosci Biobehav Rev. 2006;30:918–48.CrossRefPubMed
106.
Broyd SJ, Demanuele C, Debener S, Helps SK, James CJ, Sonuga-Barke EJS. Default-mode brain dysfunction in mental disorders: a systematic review. Neurosci Biobehav Rev. 2009;33:279–96.CrossRefPubMed
107.
Zalesky A, Fornito A, Seal ML, Cocchi L, Westin CF, Bullmore ET, et al. Disrupted axonal fiber connectivity in schizophrenia. Biol Psychiatry. 2011;69:80–9.CrossRefPubMed
108.
Hyde TM, Ziegler JC, Weinberger DR. Psychiatric disturbances in metachromatic leukodystrophy: insights into the neurobiology of psychosis. Arch Neurol. 1992;49:401–6.CrossRefPubMed
109.
Black DN, Taber KH, Hurley RA. Metachromatic leukodystrophy: a model for the study of psychosis. J Neuropsychiatry Clin Neurosci. 2003;15:289–93.CrossRefPubMed
110.
Kikinis Z, Asami T, Bouix S, Finn CT, Ballinger T, Tworog-Dube E, et al. Reduced fractional anisotropy and axial diffusivity in white matter in 22q11.2 deletion syndrome: a pilot study. Schizophr Res. 2012;141:35–9.CrossRefPubMedPubMedCentral
111.
Jalbrzikowski M, Villalon-Reina JE, Karlsgodt KH, Senturk D, Chow C, Thompson PM, et al. Altered white matter microstructure is associated with social cognition and psychotic symptoms in 22q11.2 microdeletion syndrome. Front Behav Neurosci. 2014;8:1–18.CrossRef
112.
113.
Feinberg I. Efference copy and corollary discharge: implications for thinking and its disorders. Schizophr Bull. 1978;4:636–40.CrossRefPubMed
114.
Frith CD (2014) The cognitive neuropsychology of schizophrenia. London: Psychology Press (First published 1992).CrossRef
115.
Whitford TJ, Ford JM, Mathalon DH, Kubicki M, Shenton ME. Schizophrenia, myelination, and delayed corollary discharges: a hypothesis. Schizophr Bull. 2012;38:486–94.CrossRefPubMed
116.
Blakemore S, Wolpert D, Frith C. Abnormalities in the awareness and control of action. Philos Trans R Soc B Biol Sci. 2000;355:1771–88.CrossRef
117.
Lemaitre AL, Luyat M, Lafargue G. Individuals with pronounced schizotypal traits are particularly successful in tickling themselves. Conscious Cogn. 2016;41:64–71.CrossRefPubMed
118.
Rottach KG, Von Maydell RD, Das VE, Zivotofsky AZ, Discenna AO, Gordon JL, et al. Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease. Vis Res. 1997;37:3627–38.CrossRefPubMed
119.
Leigh RJ, Kennard C. Using saccades as a research tool in the clinical neurosciences. Brain. 2004;127:460–77.CrossRefPubMed
120.
Klauser P, Baker ST, Cropley VL, Bousman C, Fornito A, Cocchi L, et al. White matter disruptions in schizophrenia are spatially widespread and topologically converge on brain network hubs. Schizophr Bull. 2017;43:425–35.PubMed
121.
122.
Stahl SM. Beyond the dopamine hypothesis of schizophrenia to three neural networks of psychosis: dopamine, serotonin, and glutamate. CNS Spectr. 2018;23:187–91.CrossRefPubMed
123.
Hu CY, Ong WY, Patel SC. Regional distribution of NPC1 protein in monkey brain. J Neurocytol. 2000;29:765–73.CrossRefPubMed
124.
Xu S, Chen X, Wei X, Liu G, Wang Q. Presynaptic impairment in Niemann-Pick C1-deficient neurons: not dependent on presence of glial cells. Neurosci Lett. 2011;496:54–9.CrossRefPubMed
125.
Brachet A, Norwood S, Brouwers JF, Palomer E, Helms JB, Dotti CG, et al. LTP-triggered cholesterol redistribution activates Cdc42 and drives AMPA receptor synaptic delivery. J Cell Biol. 2015;208(6):791–806.CrossRefPubMedPubMedCentral
126.
Frank C, Rufini S, Tancredi V, Forcina R, Grossi D, D’Arcangelo G. Cholesterol depletion inhibits synaptic transmission and synaptic plasticity in rat hippocampus. Exp Neurol. 2008;212:407–14.CrossRefPubMed
127.
Zhou S, Xu S, Yan Y, Yu H, Ling S, Luo J. Decreased purinergic inhibition of synaptic activity in a mouse model of Niemann-Pick disease type C. Hippocampus. 2011;21:212–9.CrossRefPubMed
128.
D’Arcangelo G, Grossi D, Racaniello M, Cardinale A, Zaratti A, Rufini S, et al. Miglustat reverts the impairment of synaptic plasticity in a mouse model of NPC disease. Neural Plast. 2016;2016:3830424.CrossRefPubMedPubMedCentral
129.
Xu S, Zhou S, Xia D, Xia J, Chen G, Duan S, et al. Defects of synaptic vesicle turnover at excitatory and inhibitory synapses in Niemann-Pick C1-deficient neurons. Neuroscience. 2010;167:608–20.CrossRefPubMed
130.
Buard I, Pfrieger FW. Relevance of neuronal and glial NPC1 for synaptic input to cerebellar Purkinje cells. Mol Cell Neurosci. 2014;61:65–71.CrossRefPubMed
131.
132.
Fletcher PC, Frith CD. Perceiving is believing: a Bayesian approach to explaining the positive symptoms of schizophrenia. Nat Rev Neurosci. 2008;10:48–58.CrossRefPubMed
133.
134.
Crossley NA, Mechelli A, Scott J, Carletti F, Fox PT, McGuire P, et al. The hubs of the human connectome are generally implicated in the anatomy of brain disorders. Brain. 2014;137:2382–95.CrossRefPubMedPubMedCentral
135.
136.
van den Heuvel MP, Sporns O, Collin G, Albert E. Abnormal rich club organization and functional brain dynamics in schizophrenia. JAMA Psychiatry. 2013;70:783–92.CrossRefPubMed
137.
German DC, Quintero EM, Liang C-L, Ng B, Punia S, Xie C, et al. Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease. J Comp Neurol. 2001;433:415–25.CrossRefPubMedPubMedCentral
138.
Taniguchi M, Shinoda Y, Ninomiya H, Vanier MT, Ohno K. Sites and temporal changes of gangliosides GM1/GM2 storage in the Niemann-Pick disease type C mouse brain. Brain Dev. 2001;23:414–21.CrossRefPubMed
139.
Higashi Y, Murayama S, Pentchev PG, Suzuki K. Cerebellar degeneration in the Niemann-Pick type C mouse. Acta Neuropathol. 1993;85:175–84.CrossRefPubMed
140.
Habas C, Kamdar N, Nguyen D, Keller K, Beckmann CF, Menon V, et al. Distinct cerebellar contributions to intrinsic connectivity networks. J Neurosci. 2009;29:8586–94.CrossRefPubMedPubMedCentral
141.
Wang L, Zou F, Shao Y, Ye E, Jin X, Tan S, et al. Disruptive changes of cerebellar functional connectivity with the default mode network in schizophrenia. Schizophr Res. 2014;160:67–72.CrossRefPubMed
142.
Tamminga CA, Stan AD, Wagner AD. The hippocampal formation in schizophrenia. Am J Psychiatry. 2010;167:1178–93.CrossRefPubMed
143.
144.
Velakoulis D, Wood SJ, Wong MH, Albert E. Hippocampal and amygdala volumes according to psychosis stage and diagnosis: a magnetic resonance imaging study of chronic schizophrenia, first-episode psychosis, and ultra–high-risk individuals. Arch Gen Psychiatry. 2006;63:139–49.CrossRefPubMed
145.
Tregellas JR, Smucny J, Harris JG, Olincy A, Maharajh K, Kronberg E, et al. Intrinsic hippocampal activity as a biomarker for cognition and symptoms in schizophrenia. Am J Psychiatry. 2014;171:549–56.CrossRefPubMedPubMedCentral
146.
Lieberman JA, Girgis RR, Brucato G, Moore H, Provenzano F, Kegeles L, et al. Hippocampal dysfunction in the pathophysiology of schizophrenia: a selective review and hypothesis for early detection and intervention. Mol Psychiatry. 2018;23(8):1764–72.CrossRefPubMedPubMedCentral
147.
Behrendt R-P. Contribution of hippocampal region CA3 to consciousness and schizophrenic hallucinations. Neurosci Biobehav Rev. 2010;34:1121–36.CrossRefPubMed
148.
Treiber-Held S, Distl R, Meske V, Albert F, Ohm TG. Spatial and temporal distribution of intracellular free cholesterol in brains of a Niemann-Pick type C mouse model showing hyperphosphorylated tau protein. Implications for Alzheimer’s disease. J Pathol. 2003;200:95–103.CrossRefPubMed
149.
D’Arcangelo G, Grossi D, De Chiara G, De Stefano MC, Cortese G, Citro G, et al. Glutamatergic neurotransmission in a mouse model of Niemann-Pick type C disease. Brain Res. 2011;1396:11–9.CrossRefPubMed
150.
Nagai M, Kishi K, Kato S. Insular cortex and neuropsychiatric disorders: a review of recent literature. Eur Psychiatry. 2007;22(6):387–94.CrossRefPubMed
151.
Crespo-Facorro B, Kim J-J, Andreasen NC, O ’leary DS, Bockholt HJ, Magnotta V. Insular cortex abnormalities in schizophrenia: a structural magnetic resonance imaging study of first-episode patients. Schizophr Res. 2000;46:35–43.CrossRefPubMed
152.
Shergill SS, Brammer MJ, Williams SC, Murray RM, Mcguire PK. Mapping auditory hallucinations in schizophrenia using functional magnetic resonance imaging. Arch Gen Psychiatry. 2000;57:1033–8.CrossRefPubMed
153.
Dougherty M, Lazar J, Klein JC, Diaz K, Gobillot T, Grunblatt E, et al. Genome sequencing in a case of Niemann-Pick type C. Cold Spring Harb Mol Case Stud. 2016;2:a001222.CrossRefPubMedPubMedCentral
154.
Pergola G, Selvaggi P, Trizio S, Bertolino A, Blasi G. The role of the thalamus in schizophrenia from a neuroimaging perspective. Neurosci Biobehav Rev. 2015;54:57–75.CrossRefPubMed
155.
Simpson EH, Kellendonk C, Kandel E. A possible role for the striatum in the pathogenesis of the cognitive symptoms of schizophrenia. Neuron. 2010;65:585–96.CrossRefPubMedPubMedCentral
156.
Ramnani N. The primate cortico-cerebellar system: anatomy and function. Nat Rev Neurosci. 2006;7:511–22.CrossRefPubMed
157.
158.
Buckner RL. The cerebellum and cognitive function: 25 years of insight from anatomy and neuroimaging. Neuron. 2013;80:807–15.CrossRefPubMed
159.
Schmahmann JD. An emerging concept: the cerebellar contribution to higher function. Arch Neurol. 1991;48:1178–87.CrossRefPubMed
160.
Bellebaum C, Daum I. Cerebellar involvement in executive control. Cerebellum. 2007;6:184–92.CrossRefPubMed
161.
Schmahmann J, Sherman J. The cerebellar cognitive affective syndrome. Brain. 1998;121:561–79.CrossRefPubMed
162.
Halassa MM, Kastner S. Thalamic functions in distributed cognitive control. Nat Neurosci. 2017;20:1669–79.CrossRefPubMed
163.
164.
Parnaudeau S, Bolkan SS, Kellendonk C. The mediodorsal thalamus: an essential partner of the prefrontal cortex for cognition. Biol Psychiatry. 2018;83:648–56.CrossRefPubMed
165.
Simeone JC, Ward AJ, Rotella P, Collins J, Windisch R. An evaluation of variation in published estimates of schizophrenia prevalence from 1990─2013: a systematic literature review. BMC Psychiatry. 2015;15:193.CrossRefPubMedPubMedCentral
166.
MacQueen GM, Rosebush PI, Mazurek MF. Neuropsychiatric aspects of the adult variant of Tay-Sachs disease. J Neuropsychiatry Clin Neurosci. 1998;10:10–9.CrossRefPubMed
167.
Karimzadeh P, Jafari N, Nejad Biglari H, Jabbehdari S, Khayat Zadeh S, Ahmad Abadi F, et al. Neurometabolic diagnosis in children who referred as neurodevelopmental delay (a practical criteria, in Iranian pediatric patients). Iran J Child Neurol. 2016;10:73–81.PubMedPubMedCentral
168.
Kohlschütter A, Eichler F. Childhood leukodystrophies: a clinical perspective. Expert Rev Neurother. 2011;11:1485–96.CrossRefPubMed
169.
Maubert A, Hanon C, Metton J. Adult onset Niemann-Pick type C disease and psychosis: literature review. Encephale. 2013;39:315–9.CrossRefPubMed
170.
Seo Y, Shin Y, Kim H-S, Kang I, Hong I-S, Choi SW, et al. Donepezil enhances Purkinje cell survival and alleviates motor dysfunction by inhibiting cholesterol synthesis in a murine model of Niemann pick disease type C. J Neuropathol Exp Neurol. 2014;73:234–43.CrossRefPubMed
171.
172.
Santos MLF, Raskin S, Telles DS, Löhr Junior A, Liberalesso PBN, Vieira SC, et al. Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil. J Inherit Metab Dis. 2008;31:357–61.CrossRef
173.
Wraith JE, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, et al. Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol Genet Metab. 2010;99:351–7.CrossRefPubMed
174.
Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, et al. Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C. Orphanet J Rare Dis. 2015;10:22.CrossRefPubMedPubMedCentral
175.
176.
Vite CH, Bagel JH, Swain GP, Prociuk M, Sikora TU, Stein VM, et al. Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease. Sci Transl Med. 2015;7:276ra26.CrossRefPubMedPubMedCentral
177.
178.
Berry-Kravis E, Chin J, Hoffmann A, Winston A, Stoner R, LaGorio L, et al. Long-term treatment of Niemann-Pick type C1 disease with intrathecal 2-hydroxypropyl-β-cyclodextrin. Pediatr Neurol. 2018;80:24–34.CrossRefPubMedPubMedCentral
179.
Megías-Vericat JE, García-Robles A, Company-Albir MJ, Fernández-Megía MJ, Pérez-Miralles FC, López-Briz E, et al. Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann-Pick type C disease: review of initial published cases. Neurol Sci. 2017;38:727–43.CrossRefPubMed
180.
Vtesse Inc, a Mallinckrodt Pharmaceuticals Company. Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to treat Niemann-Pick type C1 (NPC1) disease [ClinicalTrials.gov identifier NCT02534844]. National Institutes of Health, ClinicalTrials.gov. 2018. https://​clinicaltrials.​gov/​ct2/​show/​NCT02534844. Accessed 11 Dec 2018.
Metadaten
Titel
Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management
verfasst von
Thomas Rego
Sarah Farrand
Anita M. Y. Goh
Dhamidhu Eratne
Wendy Kelso
Simone Mangelsdorf
Dennis Velakoulis
Mark Walterfang
Publikationsdatum
01.02.2019
Verlag
Springer International Publishing
Erschienen in
CNS Drugs / Ausgabe 2/2019
Print ISSN: 1172-7047
Elektronische ISSN: 1179-1934
DOI
https://doi.org/10.1007/s40263-018-0599-0

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