References
- Bergeron, D., Poulin, S., & Laforce, R., Jr. (2018). Cognition and anatomy of adult Niemann–Pick disease type C: Insights for the Alzheimer field. Cognitive Neuropsychology, 35, 209–222. https://doi.org/10.1080/02643294.2017.1340264
- Bonnot, O., Gama, C. S., Mengel, E., Pineda, M., Vanier, M. T., Watson, L., Watissée, M. C., Schwierin, B., & Patterson, M. C. (2019). Psychiatric and neurological symptoms in patients with Niemann-pick disease type C (NP-C): Findings from the international NPC registry. The World Journal of Biological Psychiatry, 20, 310–319. https://doi.org/10.1080/15622975.2017.1379610
- Bonnot, O., Klünemann, H. H., Velten, C., Torres Martin, J. V., & Walterfang, M. (2019). Systematic review of psychiatric signs in Niemann-Pick disease type C. The World Journal of Biological Psychiatry, 20, 320–332. https://doi.org/10.1080/15622975.2018.1441548
- Bowman, E. A., Velakoulis, D., Desmond, P., & Walterfang, M. (2017). Longitudinal changes in white matter fractional anisotropy in adult-onset Niemann-Pick disease type C patients treated with miglustat. In JIMD Reports (Vol. 39, pp. 39–43).Springer.
- Evans, W. R., & Hendriksz, C. J. (2017). Niemann-Pick type C disease–the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment. BJPsych Bulletin, 41, 109–114. https://doi.org/10.1192/pb.bp.116.054072
- Fecarotta, S., Romano, A., Della Casa, R., Del Giudice, E., Bruschini, D., Mansi, G., Bembi, B., Dardis, A., Fiumara, A., Di Rocco, M., Uziel, G., Ardissone, A., Roccatello, D., Alpa, M., Bertini, E., D’Amico, A., Dionisi-Vici, C., Deodato, F., Caviglia, S., Federico, A., & Andria, G. (2015). Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C. Orphanet Journal of Rare Diseases, 10, 22. https://doi.org/10.1186/s13023-015-0240-y
- Geberhiwot, T., Moro, A., Dardis, A., Ramaswami, U., Sirrs, S., Marfa, M. P., & Héron, B. (2018). Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet Journal of Rare Diseases, 13, 50. https://doi.org/10.1186/s13023-018-0785-7
- Heitz, C., Epelbaum, S., & Nadjar, Y. (2017). Cognitive impairment profile in adult patients with Niemann pick type C disease. Orphanet Journal of Rare Diseases, 12,(1), 166. https://doi.org/10.1186/s13023-017-0714-1
- Jahnova, H., Dvorakova, L., Vlaskova, H., Hulkova, H., Poupetova, H., Hrebicek, M., & Jesina, P. (2014). 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 Journal of Rare Diseases, 9, 140. https://doi.org/10.1186/s13023-014-0140-6
- Kheder, A., Scott, C., Olpin, S., & Hadjivassiliou, M. (2013). Niemann–Pick type C: A potentially treatable disorder? Practical Neurology, 13, 382–385. https://doi.org/10.1136/practneurol-2013-000525
- Lo Buono, V., Corallo, F., De Cola, M. C., Chillemi, A., Grugno, R., Bramanti, P., & Marino, S. (2016). Effect of cognitive rehabilitation in a case of thalamic astrocytoma. Applied Neuropsychology: Adult, 23, 309–312. https://doi.org/10.1080/23279095.2015.1053888
- Maubert, A., Hanon, C., & Metton, J. P. (2013). Adult onset Niemann-Pick type C disease and psychosis: Literature review. L’Encephale, 39, 315–319. https://doi.org/10.1016/j.encep.2013.04.013
- Meikle, P. J., Hopwood, J. J., Clague, A. E., & Carey, W. F. (1999). Prevalence of lysosomal storage disorders. Jama, 281, 249–254. https://doi.org/10.1001/jama.281.3.249
- Patterson, M. C., Hendriksz, C. J., Walterfang, M., Sedel, F., Vanier, M. T., & Wijburg, F., & NP-C Guidelines Working Group. (2012). Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Molecular Genetics and Metabolism, 106, 330–344. https://doi.org/10.1016/j.ymgme.2012.03.012
- Rego, T., Farrand, S., Goh, A. M., Eratne, D., Kelso, W., Mangelsdorf, S., … Walterfang, M. (2019). Psychiatric and cognitive symptoms associated with niemann-pick type C disease: Neurobiology and management. CNS Drugs, 33, 125–142. https://doi.org/10.1007/s40263-018-0599-0
- Rosenbaum, A. I., & Maxfield, F. R. (2011). Niemann-Pick type C disease: Molecular mechanisms and potential therapeutic approaches. Journal of Neurochemistry, 116, 789–795. https://doi.org/10.1111/j.1471-4159.2010.06976.x
- Sedel, F. (2010). Clinical diagnosis of the adult form of Niemann-Pick type C disease. Archives de pediatrie. Organe Officiel De La Societe Francaise De Pediatrie, 17, S50–3. https://doi.org/10.1016/S0929-693X(10)70012-9
- Stampfer, M., Theiss, S., Amraoui, Y., Jiang, X., Keller, S., Ory, D. S., Mengel, E., Fischer, C., & Runz, H. (2013). Niemann-Pick disease type C clinical database: Cognitive and coordination deficits are early disease indicators. Orphanet Journal of Rare Diseases, 8, 35. https://doi.org/10.1186/1750-1172-8-35