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Articles

Cognition and anatomy of adult Niemann–Pick disease type C: Insights for the Alzheimer field

, &
Pages 209-222 | Received 02 Feb 2016, Accepted 02 Jun 2017, Published online: 30 Jun 2017

References

  • Albert, M. (2008). Neuropsychology of Alzheimer’s disease. Handbook of Clinical Neurology, 88, 511–525. doi: 10.1016/s0072-9752(07)88027-4
  • Alexander, G. E., Crutcher, M. D., & DeLong, M. R. (1990). Basal ganglia-thalamocortical circuits: Parallel substrates for motor, oculomotor, “prefrontal” and “limbic” functions. Progress in Brain Research, 85, 119–146. doi: 10.1016/S0079-6123(08)62678-3
  • Alexander, G. E., DeLong, M. R., & Strick, P. L. (1986). Parallel organization of functionally segregated circuits linking basal ganglia and cortex. Annual Review of Neuroscience, 9(1), 357–381. doi: 10.1146/annurev.ne.09.030186.002041
  • Anheim, M., Lagha-Boukbiza, O., Fleury-Lesaunier, M. C., Valenti-Hirsch, M. P., Hirsch, E., Gervais-Bernard, H., & Broussolle, E. (2014). Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease. Journal of Neurology, 261(1), 174–183. doi: 10.1007/s00415-013-7159-9
  • Auer, I., Schmidt, M., Lee, V.-Y., Curry, B., Suzuki, K., Shin, R.-W., … Trojanowski, J. (1995). Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer’s disease. Acta Neuropathologica, 90(6), 547–551. doi: 10.1007/BF00318566
  • Battisti, C., Tarugi, P., Dotti, M. T., De Stefano, N., Vattimo, A., Chierichetti, F., … Federico, A. (2003). Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study. Movement Disorders, 18(11), 1405–1409. doi: 10.1002/mds.10541
  • Benussi, A., Alberici, A., Premi, E., Bertasi, V., Cotelli, M. S., Turla, M., … Paghera, B. (2015). Phenotypic heterogeneity of Niemann–Pick disease type C in monozygotic twins. Journal of Neurology, 262(3), 642–647. doi: 10.1007/s00415-014-7619-x
  • Bianchini, F., Di Vita, A., Palermo, L., Piccardi, L., Blundo, C., & Guariglia, C. (2014). A selective egocentric topographical working memory deficit in the early stages of Alzheimer's disease: A preliminary study. American Journal of Alzheimer’s Disease & Other Dementias®, 29(8), 749–754. doi: 10.1177/1533317514536597
  • Borbon, I., Totenhagen, J., Fiorenza, M. T., Canterini, S., Ke, W., Trouard, T., & Erickson, R. P. (2012). Niemann-Pick C1 mice, a model of "juvenile Alzheimer’s disease", with normal gene expression in neurons and fibrillary astrocytes show long term survival and delayed neurodegeneration. Journal of Alzheimer’s Disease, 30(4), 875–887. doi: 10.3233/jad-2012-120199
  • Bowman, E. A., Walterfang, M., Abel, L., Desmond, P., Fahey, M., & Velakoulis, D. (2015). Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat. Journal of Neurology, 262(9), 2106–2114. doi: 10.1007/s00415-015-7819-z
  • Braak, H., & Braak, E. (1991). Neuropathological stageing of Alzheimer-related changes. Acta Neuropathologica, 82(4), 239–259. doi: 10.1007/BF00308809
  • Breen, L., Morris, H. H., Alperin, J. B., & Schochet, S. S. (1981). Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two cases reports and review of the literature. Archives of Neurology, 38(6), 388–478. doi: 10.1001/archneur.1981.00510060090021
  • Brier, M. R., Gordon, B., Friedrichsen, K., McCarthy, J., Stern, A., … Ances, B. M. (2016). Tau and abeta imaging, CSF measures, and cognition in Alzheimer’s disease. Science Translational Medicine, 8(338), 1–9. doi: 10.1126/scitranslmed.aaf2362
  • Bu, B., Klunemann, H., Suzuki, K., Li, J., Bird, T., Jin, L.-W., & Vincent, I. (2002). Niemann-Pick disease type C yields possible clue for why cerebellar neurons do not form neurofibrillary tangles. Neurobiology of Disease, 11(2), 285–297. doi: 10.1006/nbdi.2002.0551
  • Buckner, R. L., Sepulcre, J., Talukdar, T., Krienen, F. M., Liu, H., Hedden, T. Johnson, K. A. (2009). Cortical hubs revealed by intrinsic functional connectivity: Mapping, assessment of stability, and relation to alzheimer’s disease. Journal of Neuroscience, 29(6), 1860–1873. doi: 10.1523/jneurosci.5062-08.2009
  • Campo, J. V., 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. Developmental Medicine and Child Neurology, 40(2), 126–135. doi: 10.1111/j.1469-8749.1998.tb15374.x
  • Carlesimo, G. A., Perri, R., & Caltagirone, C. (2011). Category cued recall following controlled encoding as a neuropsychological tool in the diagnosis of Alzheimer’s disease: A review of the evidence. Neuropsychology Review, 21(1), 54–65. doi: 10.1007/s11065-010-9153-7
  • Carstea, E. D., Morris, J. A., Coleman, K. G., Loftus, S. K., Zhang, D., Cummings, C., … Krizman, D. B. (1997). Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis. Science, 277(5323), 228–231. doi: 10.1126/science.277.5323.228
  • Chen, X., Hui, L., Soliman, M. L., & Geiger, J. D. (2014). Altered cholesterol intracellular trafficking and the development of pathological hallmarks of sporadic AD. Journal of Parkinson’s Disease and Alzheimer’s Disease, 1(1), 1–17.
  • Cho, H., Choi, J. Y., Hwang, M. S., Kim, Y. J., Lee, H. M., Lee, H. S. Lyoo, C. H. (2016). In vivo cortical spreading pattern of tau and amyloid in the Alzheimer disease spectrum. Annals of Neurology, 80(2), 247–258. doi: 10.1002/ana.24711
  • Cologna, S. M., Cluzeau, C. V., Yanjanin, N. M., Blank, P. S., Dail, M. K., Siebel, S., … Porter, F. D. (2014). Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. Journal of Inherited Metabolic Disease, 37(1), 83–92. doi: 10.1007/s10545-013-9610-6
  • Corder, E., Saunders, A., Strittmatter, W., Schmechel, D., Gaskell, P., Small, G., … Pericak-Vance, M. A. (1993). Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science, 261(5123), 921–923. doi: 10.1126/science.8346443
  • Cummings, J. L. (1993). Frontal-subcortical circuits and human behavior. Archives of Neurology, 50(8), 873–880. doi: 10.1001/archneur.1993.00540080076020
  • Damasio, A. R., & Anderson, S. W. (2003). The frontal lobes. In K. M. Heilman, & E. Valenstein (Eds.), Clinical neuropsychology (4th ed., pp. 404–446). New York: Oxford University Press.
  • Davies, P., & Maloney, A. J. F. (1976). Selective loss of central cholinergic neurons in Alzheimer’s disease. The Lancet, 308(8000), 1403. doi: 10.1016/S0140-6736(76)91936-X
  • Dickerson, B. C., & Wolk, D. A. (2011). Dysexecutive versus amnesic phenotypes of very mild Alzheimer’s disease are associated with distinct clinical, genetic and cortical thinning characteristics. Journal of Neurology, Neurosurgery & Psychiatry, 82(1), 45–51. doi: 10.1136/jnnp.2009.199505
  • Elleder, M., Jirásek, A., Smíd, F., Ledvinová, J., & Besley, G. T. (1985). Niemann-Pick disease type C. Study on the nature of the cerebral storage process. Acta Neuropathologica, 66(4), 325–336. doi: 10.1007/BF00690966
  • Ferraro, S., Nanetti, L., Piacentini, S., Mandelli, M. L., Bertolino, N., Ghielmetti, F., … Grisoli, M. (2014). Frontal cortex BOLD signal changes in premanifest huntington disease: A possible fMRI biomarker. Neurology, 83(1), 65–72. doi: 10.1212/wnl.0000000000000538
  • Foley, P. (2010). Lipids in Alzheimer’s disease: A century-old story. Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids, 1801(8), 750–753.
  • Fornito, A., Zalesky, A., & Breakspear, M. (2015). The connectomics of brain disorders. Nature Reviews Neuroscience, 16(3), 159–172. doi: 10.1038/nrn3901
  • Fu, R., Yanjanin, N. M., Elrick, M. J., Ware, C., Lieberman, A. P., & Porter, F. D. (2012). Apolipoprotein E genotype and neurological disease onset in Niemann–Pick disease, type C1. American Journal of Medical Genetics Part A, 158A(11), 2775–2780. doi: 10.1002/ajmg.a.35395
  • Godefroy, O., Martinaud, O., Verny, M., Mosca, C., Lenoir, H., Bretault, E., & Roussel, M. (2014). The dysexecutive syndrome of Alzheimer’s disease: The GREFEX study. J Alzheimers Dis, 42(4), 1203–1208. doi: 10.3233/JAD-140585
  • Grau, A. J., Brandt, T., Weisbrod, M., Niethammer, R., Forsting, M., Cantz, M., & Vanier, M. T. (1997). Adult Niemann-Pick disease type C mimicking features of multiple sclerosis. Journal of Neurology, Neurosurgery, and Psychiatry, 63(4), 552–553. doi: 10.1136/jnnp.63.4.552
  • Guo, C. C., Tan, R., Hodges, J. R., Hu, X., Sami, S., & Hornberger, M. (2016). Network-selective vulnerability of the human cerebellum to Alzheimer’s disease and frontotemporal dementia. Brain, 139(Pt 5), 1527–1538. doi: 10.1093/brain/aww003
  • Harding, I. H., Corben, L. A., Storey, E., Egan, G. F., Stagnitti, M. R., Poudel, G. R., … Georgiou-Karistianis, N. (2016). Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: The IMAGE-FRDA study. Human Brain Mapping, 37(1), 338–350. doi: 10.1002/hbm.23034
  • Heneka, M. T., Carson, M. J., El Khoury, J., Landreth, G. E., Brosseron, F., Feinstein, D. L., … Ransohoff, R. M. (2015). Neuroinflammation in Alzheimer’s disease. The Lancet Neurology, 14(4), 388–405. doi: 10.1016/S1474-4422(15)70016-5
  • Hinton, V., Vecchio, D., Prady, H., Wraith, E., & Patterson, M. (2005). The cognitive phenotype of type C disease: neuropsychological characteristics of patients at baseline in a clinical trial with oral miglustat. American Society of Human Genetics conference, Salt Lake City.
  • Horoupian, D. S., & Yang, S. S. (1978). Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis). Annals of Neurology, 4(5), 404–411. doi: 10.1002/ana.410040504
  • Huang, J.-Y., Peng, S.-F., Yang, C.-C., Yen, K.-Y., Tzen, K.-Y., & Yen, R.-F. (2011). Neuroimaging findings in a brain with Niemann–Pick type C disease. Journal of the Formosan Medical Association, 110(8), 537–542. doi: 10.1016/S0929-6646(11)60080-6
  • Hulette, C. M., Earl, N. L., Anthony, D. C., & Crain, B. J. (1992). Adult onset Niemann-Pick disease type C presenting with dementia and absent organomegaly. Clinical Neuropathology, 11(6), 293–300.
  • Jagust, W. (2016). Is amyloid-beta harmful to the brain? Insights from human imaging studies. Brain, 139(Pt 1), 23–30. doi: 10.1093/brain/awv326
  • Jamrozik, Z., Szczudlik, P., Lugowska, A., Weiß, S., Rolfs, A., Czartoryska, B., & Kwiecinski, H. (2013). A case report of ‘variant’ biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options. Neurologia i neurochirurgia polska, 47(1), 86–95. doi: 10.5114/ninp.2012.31548
  • Jin, L.-W., Maezawa, I., Vincent, I., & Bird, T. (2004). Intracellular accumulation of amyloidogenic fragments of amyloid-β precursor protein in neurons with Niemann-Pick type C defects is associated with endosomal abnormalities. The American Journal of Pathology, 164(3), 975–985. doi: 10.1016/S0002-9440(10)63185-9
  • Kågedal, K., Kim, W. S., Appelqvist, H., Chan, S., Cheng, D., Agholme, L., … Garner, B. (2010). Increased expression of the lysosomal cholesterol transporter NPC1 in Alzheimer’s disease. Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids, 1801(8), 831–838.
  • Klarner, B., Klunemann, H. H., Lurding, R., Aslanidis, C., & Rupprecht, R. (2007). Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations. Journal of Inherited Metabolic Disease, 30(1), 60–67. doi: 10.1007/s10545-006-0417-6
  • Klünemann, H. H., Elleder, M., Kaminski, W. E., Snow, K., Peyser, J. M., O’Brien, J. F., & Munoz, D. (2002). Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. Annals of Neurology, 52(6), 743–752. doi: 10.1002/ana.10366
  • Kresojević, N., Dobričić, V., Svetel, M., & Kostić, V. (2014). Mutations in Niemann Pick type C gene are risk factor for Alzheimer’s disease. Medical Hypotheses, 83(5), 559–562. doi: 10.1016/j.mehy.2014.08.025
  • Kumar, A., & Chugani, H. T. (2011). Niemann-Pick disease type C: Unique 2-deoxy-2 [18 F] fluoro-d-glucose PET abnormality. Pediatric Neurology, 44(1), 57–60. doi: 10.1016/j.pediatrneurol.2010.08.004
  • Kunz, L., Schroder, T. N., Lee, H., Montag, C., Lachmann, B., Sariyska, R., … Axmacher, N. (2015). Reduced grid-cell-like representations in adults at genetic risk for Alzheimer’s disease. Science, 350(6259), 430–433. doi: 10.1126/science.aac8128
  • Lanska, D. J., & Lanska, M. J. (1993). Niemann-Pick disease type C in a middle-aged woman. Neurology, 43(7), 1435–1441. doi: 10.1212/WNL.43.7.1435-a
  • Lazar, A. N., Bich, C., Panchal, M., Desbenoit, N., Petit, V. W., Touboul, D., … Brunelle, A. (2013). Time-of-flight secondary ion mass spectrometry (TOF-SIMS) imaging reveals cholesterol overload in the cerebral cortex of Alzheimer disease patients. Acta Neuropathologica, 125(1), 133–144. doi: 10.1007/s00401-012-1041-1
  • Lee, V. M., Goedert, M., & Trojanowski, J. Q. (2001). Neurodegenerative tauopathies. Annual Review of Neuroscience, 24(1), 1121–1159. doi: 10.1146/annurev.neuro.24.1.1121
  • Longstreth, W. T., Daven, J. R., Farrell, D. F., Bolen, J. W., & Bird, T. D. (1982). Adult dystonic lipidosis: Clinical, histologic, and biochemical findings of a neurovisceral storage disease. Neurology, 32(11), 1295–1304. doi: 10.1212/WNL.32.11.1295
  • Lossos, A., Schlesinger, I., Okon, E., Abramsky, O., Bargal, R., Vanier, M. T., & Zeigler, M. (1997). Adult-onset Niemann-Pick type C disease: Clinical, biochemical, and genetic study. Archives of Neurology, 54(12), 1536–1541. doi: 10.1001/archneur.1997.00550240084016
  • Love, S., Bridges, L. R., & Case, C. P. (1995). Neurofibrillary tangles in Niemann-Pick disease type C. Brain, 118(1), 119–129. doi: 10.1093/brain/118.1.119
  • Lyketsos, C. G., Sheppard, J. M., Steinberg, M., Tschanz, J. A., Norton, M. C., Steffens, D. C., & Breitner, J. C. (2001). Neuropsychiatric disturbance in Alzheimer’s disease clusters into three groups: The cache county study. International Journal of Geriatric Psychiatry, 16(11), 1043–1053. doi: 10.1002/gps.448
  • Lyketsos, C. G., Steinberg, M., Tschanz, J. T., Norton, M. C., Steffens, D. C., & Breitner, J. C. (2000). Mental and behavioral disturbances in dementia: Findings from the cache county study on memory in aging. American Journal of Psychiatry, 157(5), 708–714. doi: 10.1176/appi.ajp.157.5.708
  • Mak, M., Tyburski, E., Madany, L., Sokolowski, A., & Samochowiec, A. (2016). Executive function deficits in patients after cerebellar neurosurgery. Journal of the International Neuropsychological Society, 22(1), 47–57. doi: 10.1017/s1355617715001174
  • Malnar, M., Hecimovic, S., Mattsson, N., & Zetterberg, H. (2014). Bidirectional links between Alzheimer’s disease and Niemann–Pick type C disease. Neurobiology of Disease, 72, 37–47. doi: 10.1016/j.nbd.2014.05.033
  • Manganelli, F., Dubbioso, R., Iodice, R., Topa, A., Dardis, A., Russo, C. V., … Santoro, L. (2014). Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: A further link with Alzheimer’s disease? Journal of Neurology, 261(4), 804–808. doi: 10.1007/s00415-014-7282-2
  • Masterman, D. L., & Cummings, J. L. (1997). Frontal-subcortical circuits: The anatomic basis of executive, social and motivated behaviors. Journal of Psychopharmacology, 11(2), 107–114. doi: 10.1177/026988119701100203
  • Mattsson, N., Olsson, M., Gustavsson, M. K., Kosicek, M., Malnar, M., Månsson, J.-E., … Brinkmalm, G. (2012). Amyloid-β metabolism in Niemann-Pick C disease models and patients. Metabolic Brain Disease, 27(4), 573–585. doi: 10.1007/s11011-012-9332-8
  • Mattsson, N., Zetterberg, H., Bianconi, S., Yanjanin, N. M., Fu, R., Mansson, J. E., … Blennow, K. (2011). Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: A cross-sectional study. Neurology, 76(4), 366–372. doi: 10.1212/WNL.0b013e318208f4ab
  • Maubert, A., Hanon, C., & Sedel, F. (2015). Psychiatric disorders in adult form of Niemann-Pick disease type C. Encephale. doi: 10.1016/j.encep.2015.11.003
  • Mez, J., Cosentino, S., Brickman, A. M., Huey, E. D., Manly, J. J., & Mayeux, R. (2013a). Dysexecutive versus amnestic Alzheimer disease subgroups: Analysis of demographic, genetic, and vascular factors. Alzheimer Disease and Associated Disorders, 27(3), 218–225. doi: 10.1097/WAD.0b013e31826a94bd
  • Mez, J., Cosentino, S., Brickman, A. M., Huey, E. D., Manly, J. J., & Mayeux, R. (2013b). Faster cognitive and functional decline in dysexecutive versus amnestic Alzheimer’s subgroups: A longitudinal analysis of the national Alzheimer’s coordinating center (NACC) database. PLoS ONE, 8(6), e65246. doi: 10.1371/journal.pone.0065246
  • Mez, J., Mukherjee, S., Thornton, T., Fardo, D. W., Trittschuh, E., Sutti, S., … Crane, P. K. (2016). The executive prominent/memory prominent spectrum in Alzheimer’s disease is highly heritable. Neurobiology of Aging, 41, 115–121. doi: 10.1016/j.neurobiolaging.2016.02.015
  • Monacelli, A. M., Cushman, L. A., Kavcic, V., & Duffy, C. J. (2003). Spatial disorientation in Alzheimer’s disease: The remembrance of things passed. Neurology, 61(11), 1491–1497. doi: 10.1212/WNL.61.11.1491
  • Mukaetova-Ladinska, E., Harrington, C., Roth, M., & Wischik, C. (1993). Biochemical and anatomical redistribution of tau protein in Alzheimer’s disease. The American Journal of Pathology, 143(2), 565–578.
  • Mukherjee, S., Trittschuh, E., Gibbons, L. E., Mackin, R. S., Saykin, A., & Crane, P. K. (2012). Dysexecutive and amnesic AD subtypes defined by single indicator and modern psychometric approaches: Relationships with SNPs in ADNI. Brain Imaging and Behavior, 6(4), 649–660. doi: 10.1007/s11682-012-9207-y
  • Naureckiene, S., Sleat, D. E., Lackland, H., Fensom, A., Vanier, M. T., Wattiaux, R., … Lobel, P. (2000). Identification of HE1 as the second gene of Niemann-Pick C disease. Science, 290(5500), 2298–2301. doi: 10.1126/science.290.5500.2298
  • Nixon, R. A. (2004). Niemann-Pick type C disease and Alzheimer’s disease: The APP-endosome connection fattens up. The American Journal of Pathology, 164(3), 757–761. doi: 10.1016/S0002-9440(10)63163-X
  • Ossenkoppele, R., Pijnenburg, Y. A., Perry, D. C., Cohn-Sheehy, B. I., Scheltens, N. M., Vogel, J. W., … Rabinovici, G. D. (2015). The behavioural/dysexecutive variant of Alzheimer’s disease: Clinical, neuroimaging and pathological features. Brain, 138(Pt 9), 2732–2749. doi: 10.1093/brain/awv191
  • Palmeri, S., Battisti, C., Federico, A., & Guazzi, G. (1994). Hypoplasia of the corpus callosum in Niemann-Pick type C disease. Neuroradiology, 36(1), 20–22. doi: 10.1007/BF00599187
  • Patterson, M. C., Hendriksz, C. J., Walterfang, M., Sedel, F., Vanier, M. T., Wijburg, F., & Group, N.-C. G. W. (2012). Recommendations for the diagnosis and management of niemann–pick disease type C: An update. Molecular Genetics and Metabolism, 106(3), 330–344. doi: 10.1016/j.ymgme.2012.03.012
  • Patterson, M. C., Mengel, E., Wijburg, F. A., Muller, A., Schwierin, B., Drevon, H. Pineda, M. (2013). Disease and patient characteristics in NP-C patients: Findings from an international disease registry. Orphanet Journal of Rare Diseases, 8(12), 1750–1172.
  • Pedersen, J. T., & Sigurdsson, E. M. (2015). Tau immunotherapy for Alzheimer’s disease. Trends in Molecular Medicine, 21(6), 394–402. doi: 10.1016/j.molmed.2015.03.003
  • Pentchev, P. G., Comly, M. E., Kruth, H. S., Vanier, M. T., Wenger, D. A., Patel, S., & Brady, R. O. (1985). A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proceedings of the National Academy of Sciences, 82(23), 8247–8251. doi: 10.1073/pnas.82.23.8247
  • Rabinovici, G. D., Stephens, M. L., & Possin, K. L. (2015). Executive dysfunction. Continuum (Minneap Minn), 21(3 Behavioral Neurology and Neuropsychiatry), 646–659. doi: 10.1212/01.con.0000466658.05156.54
  • Ramnani, N. (2006). The primate cortico-cerebellar system: Anatomy and function. Nature Reviews Neuroscience, 7(7), 511–522. doi: 10.1038/nrn1953
  • Reed, B., Villeneuve, S., Mack, W., DeCarli, C., Chui, H. C., & Jagust, W. (2014). Associations between serum cholesterol levels and cerebral amyloidosis. JAMA Neurology, 71(2), 195–200. doi: 10.1001/jamaneurol.2013.5390
  • Rosenbaum, A. I., & Maxfield, F. R. (2011). Niemann-Pick type C disease: Molecular mechanisms and potential therapeutic approaches. Journal of Neurochemistry, 116(5), 789–795. doi: 10.1111/j.1471-4159.2010.06976.x
  • Rosenberg, P. B., Nowrangi, M. A., & Lyketsos, C. G. (2015). Neuropsychiatric symptoms in Alzheimer’s disease: What might be associated brain circuits? Molecular Aspects of Medicine, 43-44, 25–37. doi: 10.1016/j.mam.2015.05.005
  • Saito, Y., Suzuki, K., Nanba, E., Yamamoto, T., Ohno, K., & Murayama, S. (2002). Niemann–Pick type C disease: Accelerated neurofibrillary tangle formation and amyloid β deposition associated with apolipoprotein E ε4 homozygosity. Annals of Neurology, 52(3), 351–355. doi: 10.1002/ana.10266
  • Sarazin, M., Chauvire, V., Gerardin, E., Colliot, O., Kinkingnehun, S., de Souza, L. C., … Dubois, B. (2010). The amnestic syndrome of hippocampal type in Alzheimer’s disease: An MRI study. Journal of Alzheimer’s Disease, 22(1), 285–294. doi: 10.3233/JAD-2010-091150
  • Saxena, S., & Caroni, P. (2011). Selective neuronal vulnerability in neurodegenerative diseases: From stressor thresholds to degeneration. Neuron, 71(1), 35–48. doi: 10.1016/j.neuron.2011.06.031
  • Scheltens, P., Blennow, K., Breteler, M. M. B., de Strooper, B., Frisoni, G. B., Salloway, S., & Van der Flier, W. M. (2016). Alzheimer’s disease. The Lancet, 388(10043), 505–517. doi: 10.1016/S0140-6736(15)01124-1
  • Schmahmann, J. D., & Pandya, D. N. (2008). Disconnection syndromes of basal ganglia, thalamus, and cerebrocerebellar systems. Cortex, 44(8), 1037–1066. doi: 10.1016/j.cortex.2008.04.004
  • Scholl, M., Lockhart, S. N., Schonhaut, D. R., O'Neil, J. P., Janabi, M., Ossenkoppele, R., … Jagust, W. J. (2016). PET imaging of Tau deposition in the aging human brain. Neuron, 89(5), 971–982. doi: 10.1016/j.neuron.2016.01.028
  • Seeley, W. W., Crawford, R. K., Zhou, J., Miller, B. L., & Greicius, M. D. (2009). Neurodegenerative diseases target large-scale human brain networks. Neuron, 62(1), 42–52. doi: 10.1016/j.neuron.2009.03.024
  • Sepulcre, J., Schultz, A. P., Sabuncu, M., Gomez-Isla, T., Chhatwal, J., Becker, A., … Johnson, K. A. (2016). In vivo Tau, amyloid, and gray matter profiles in the aging brain. Journal of Neuroscience, 36(28), 7364–7374. doi: 10.1523/JNEUROSCI.0639-16.2016
  • Sévin, M., Lesca, G., Baumann, N., Millat, G., Lyon-Caen, O., Vanier, M. T., & Sedel, F. (2007). The adult form of niemann–pick disease type C. Brain, 130(1), 120–133. doi: 10.1093/brain/awl260
  • Shepherd, G. M. (2013). Corticostriatal connectivity and its role in disease. Nature Reviews Neuroscience, 14(4), 278–291. doi: 10.1038/nrn3469
  • Suzuki, K., Parker, C. C., Pentchev, P. G., Katz, D., Ghetti, B., D'Agostino, A. N., & Carstea, E. D. (1995). Neurofibrillary tangles in Niemann-Pick disease type C. Acta Neuropathologica, 89(3), 227–238. doi: 10.1007/BF00309338
  • Szakszon, K., Szegedi, I., Magyar, A., Oláh, E., Andrejkovics, M., Balla, P., & Lengyel, A. (2014). Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient. European Journal of Paediatric Neurology, 18(1), 75–83. doi: 10.1016/j.ejpn.2013.08.002
  • Teipel, S., Drzezga, A., Grothe, M. J., Barthel, H., Chetelat, G., Schuff, N., … Fellgiebel, A. (2015). Multimodal imaging in Alzheimer’s disease: Validity and usefulness for early detection. The Lancet Neurology, 14(10), 1037–1053. doi: 10.1016/s1474-4422(15)00093-9
  • Tekin, S., & Cummings, J. L. (2002). Frontal–subcortical neuronal circuits and clinical neuropsychiatry: An update. Journal of Psychosomatic Research, 53(2), 647–654. doi: 10.1016/S0022-3999(02)00428-2
  • Tounsi, H., Deweer, B., Ergis, A. M., Van der Linden, M., Pillon, B., Michon, A., & Dubois, B. (1999). Sensitivity to semantic cuing: An index of episodic memory dysfunction in early Alzheimer disease. Alzheimer Disease & Associated Disorders, 13(1), 38–46. doi: 10.1097/00002093-199903000-00006
  • Trendelenburg, G., Vanier, M. T., Maza, S., Millat, G., Bohner, G., Munz, D. L., & Zschenderlein, R. (2006). Niemann-Pick type C disease in a 68-year-old patient. Journal of Neurology, Neurosurgery, and Psychiatry, 77(8), 997–1005. doi: 10.1136/jnnp.2005.086785
  • Unschuld, P. G., Joel, S. E., Liu, X., Shanahan, M., Margolis, R. L., Biglan, K. M., … Ross, C. A. (2012). Impaired cortico-striatal functional connectivity in prodromal Huntington’s disease. Neuroscience Letters, 514(2), 204–209. doi: 10.1016/j.neulet.2012.02.095
  • Vanier, M. T. (2010). Review Niemann-Pick disease type C. Orphanet Journal of Rare Diseases, 5, 1750–1772. doi: 10.1186/1750-1172-5-16
  • Vanier, M. T. (2015). Complex lipid trafficking in Niemann-Pick disease type C. Journal of Inherited Metabolic Disease, 38(1), 187–199. doi: 10.1007/s10545-014-9794-4
  • Villanueva, R. (2012). The cerebellum and neuropsychiatric disorders. Psychiatry Research, 198(3), 527–532. doi: 10.1016/j.psychres.2012.02.023
  • Walterfang, M., Abel, L. A., Desmond, P., Fahey, M. C., Bowman, E. A., & Velakoulis, D. (2013). Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C. Molecular Genetics and Metabolism, 108(1), 85–89. doi: 10.1016/j.ymgme.2012.11.009
  • Walterfang, M., Fahey, M., Abel, L., Fietz, M., Wood, A., Bowman, E., … Velakoulis, D. (2011). Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables. American Journal of Neuroradiology, 32(7), 1340–1346. doi: 10.3174/ajnr.A2490
  • Walterfang, M., Fahey, M., Desmond, P., Wood, A., Seal, M., Steward, C., … Velakoulis, D. (2010). White and gray matter alterations in adults with Niemann-Pick disease type CA cross-sectional study. Neurology, 75(1), 49–56. doi: 10.1212/WNL.0b013e3181e6210e
  • Walterfang, M., Fietz, M., Abel, L., Bowman, E., Mocellin, R., & Velakoulis, D. (2009). Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C. Journal of Inherited Metabolic Disease, 32(S1), 221–226. doi: 10.1007/s10545-009-1173-1
  • Walterfang, M., Fietz, M., Fahey, M., Sullivan, D., Leane, P., Lubman, D. I., & Velakoulis, D. (2006). The neuropsychiatry of Niemann-Pick type C disease in adulthood. The Journal of Neuropsychiatry and Clinical Neurosciences, 18(2), 158–170. doi: 10.1176/jnp.2006.18.2.158
  • Walterfang, M., Patenaude, B., Abel, L., Kluenemann, H., Bowman, E., Fahey, M. Velakoulis, D. (2013). Subcortical volumetric reductions in adult Niemann-Pick disease type C: A cross-sectional study. American Journal of Neuroradiology, 34(7), 1334–1340. doi: 10.3174/ajnr.A3356
  • Wang, L., Benzinger, T. L., Su, Y., Christensen, J., Friedrichsen, K., Aldea, P., … Ances, B. M. (2016). Evaluation of Tau imaging in staging Alzheimer disease and revealing interactions between beta-amyloid and tauopathy. JAMA Neurology, 73(9), 1070–1077. doi: 10.1001/jamaneurol.2016.2078
  • Wang, Y., & Mandelkow, E. (2016). Tau in physiology and pathology. Nature Reviews Neuroscience, 17(1), 22–35. doi: 10.1038/nrn.2015.1
  • Yamada, K., Holth, J. K., Liao, F., Stewart, F. R., Mahan, T. E., Jiang, H., … Mandelkow, E.-M. (2014). Neuronal activity regulates extracellular tau in vivo. The Journal of Experimental Medicine, 211(3), 387–393. doi: 10.1084/jem.20131685
  • Zaaraoui, W., Crespy, L., Rico, A., Faivre, A., Soulier, E., Confort-Gouny, S., … Kaphan, E. (2011). In vivo quantification of brain injury in adult Niemann–Pick disease type C. Molecular Genetics and Metabolism, 103(2), 138–141. doi: 10.1016/j.ymgme.2011.02.013

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