Book contents
- Movement Disorders and Inherited Metabolic Disorders
- Movement Disorders and Inherited Metabolic Disorders
- Copyright page
- Dedication
- Contents
- Contributors
- Preface
- Acknowledgments
- Section I General Principles and a Phenomenology-Based Approach to Movement Disorders and Inherited Metabolic Disorders
- Section II A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders
- Chapter 12 Disorders of Amino Acid Metabolism: Amino Acid Disorders, Organic Acidurias, and Urea Cycle Disorders with Movement Disorders
- Chapter 13 Disorders of Energy Metabolism: GLUT1 Deficiency Syndrome and Movement Disorders
- Chapter 14 Lysosomal Storage Disorders: Niemann–Pick Disease Type C and Movement Disorders
- Chapter 15 Lysosomal Storage Disorders: Neuronal Ceroid Lipofuscinoses and Movement Disorders
- Chapter 16 Syndromes of Neurodegeneration with Brain Iron Accumulation
- Chapter 17 Metal Storage Disorders: Inherited Disorders of Copper and Manganese Metabolism and Movement Disorders
- Chapter 18 Metal Storage Disorders: Primary Familial Brain Calcification and Movement Disorders
- Chapter 19 Disorders of Glycosylation and Movement Disorders
- Chapter 20 Disorders of Post-Translational Modifications/Degradation: Autophagy and Movement Disorders
- Chapter 21 Neurotransmitter Disorders: Disorders of Dopamine Metabolism and Movement Disorders
- Chapter 22 Neurotransmitter Disorders: DNAJC12-Deficient Hyperphenylalaninemia – An Emerging Neurotransmitter Disorder
- Chapter 23 Neurotransmitter Disorders: Disorders of GABA Metabolism and Movement Disorders
- Chapter 24 Vitamin-Responsive Disorders: Ataxia with Vitamin E Deficiency and Movement Disorders
- Chapter 25 Vitamin-Responsive Disorders: Biotin–Thiamine-Responsive Basal Ganglia Disease and Movement Disorders
- Chapter 26 Disorders of Cholesterol Metabolism: Cerebrotendinous Xanthomatosis and Movement Disorders
- Chapter 27 Purine Metabolism Defects: The Movement Disorder of Lesch–Nyhan Disease
- Chapter 28 Disorders of Creatine Metabolism: Creatine Deficiency Syndromes and Movement Disorders
- Chapter 29 Hereditary Spastic Paraplegia-Related Inborn Errors of Metabolism
- Section III Conclusions and Future Directions
- Appendix: Video Captions
- Index
- References
Chapter 14 - Lysosomal Storage Disorders: Niemann–Pick Disease Type C and Movement Disorders
from Section II - A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders
Published online by Cambridge University Press: 24 September 2020
Book contents
- Movement Disorders and Inherited Metabolic Disorders
- Movement Disorders and Inherited Metabolic Disorders
- Copyright page
- Dedication
- Contents
- Contributors
- Preface
- Acknowledgments
- Section I General Principles and a Phenomenology-Based Approach to Movement Disorders and Inherited Metabolic Disorders
- Section II A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders
- Chapter 12 Disorders of Amino Acid Metabolism: Amino Acid Disorders, Organic Acidurias, and Urea Cycle Disorders with Movement Disorders
- Chapter 13 Disorders of Energy Metabolism: GLUT1 Deficiency Syndrome and Movement Disorders
- Chapter 14 Lysosomal Storage Disorders: Niemann–Pick Disease Type C and Movement Disorders
- Chapter 15 Lysosomal Storage Disorders: Neuronal Ceroid Lipofuscinoses and Movement Disorders
- Chapter 16 Syndromes of Neurodegeneration with Brain Iron Accumulation
- Chapter 17 Metal Storage Disorders: Inherited Disorders of Copper and Manganese Metabolism and Movement Disorders
- Chapter 18 Metal Storage Disorders: Primary Familial Brain Calcification and Movement Disorders
- Chapter 19 Disorders of Glycosylation and Movement Disorders
- Chapter 20 Disorders of Post-Translational Modifications/Degradation: Autophagy and Movement Disorders
- Chapter 21 Neurotransmitter Disorders: Disorders of Dopamine Metabolism and Movement Disorders
- Chapter 22 Neurotransmitter Disorders: DNAJC12-Deficient Hyperphenylalaninemia – An Emerging Neurotransmitter Disorder
- Chapter 23 Neurotransmitter Disorders: Disorders of GABA Metabolism and Movement Disorders
- Chapter 24 Vitamin-Responsive Disorders: Ataxia with Vitamin E Deficiency and Movement Disorders
- Chapter 25 Vitamin-Responsive Disorders: Biotin–Thiamine-Responsive Basal Ganglia Disease and Movement Disorders
- Chapter 26 Disorders of Cholesterol Metabolism: Cerebrotendinous Xanthomatosis and Movement Disorders
- Chapter 27 Purine Metabolism Defects: The Movement Disorder of Lesch–Nyhan Disease
- Chapter 28 Disorders of Creatine Metabolism: Creatine Deficiency Syndromes and Movement Disorders
- Chapter 29 Hereditary Spastic Paraplegia-Related Inborn Errors of Metabolism
- Section III Conclusions and Future Directions
- Appendix: Video Captions
- Index
- References
Summary
Niemann–Pick disease type C (NPC) is an atypical, ultra-rare, lysosomal storage disease [1]. In contrast to classic lysosomal storage diseases [2], the lysosomal storage of macromolecules is not caused by an enzyme deficiency, but rather by a deficiency of the protein products of two distinct genes, NPC1 and NPC2 [3, 4]. These two proteins are highly conserved across species; despite intense study for many years, their basic functions and the sequence of pathogenic events remains uncertain.
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- Information
- Movement Disorders and Inherited Metabolic DisordersRecognition, Understanding, Improving Outcomes, pp. 196 - 201Publisher: Cambridge University PressPrint publication year: 2020
References
Patterson, MC, Clayton, P, Gissen, P, et al. Recommendations for the detection and diagnosis of Niemann–Pick disease type C: An update. Neurol Clin Pract. 2017;7(6):499–511.CrossRefGoogle ScholarPubMed
Carstea, ED, Morris, JA, Coleman, KG, et al. Niemann–Pick C1 disease gene: Homology to mediators of cholesterol homeostasis. Science. 1997;277(5323):228–31.Google Scholar
Naureckiene, S, Sleat, DE, Lackland, H, et al. Identification of HE1 as the second gene of Niemann–Pick C disease. Science. 2000;290(5500):2298–301.CrossRefGoogle ScholarPubMed
Lloyd-Evans, E, Platt, FM. Lipids on trial: The search for the offending metabolite in Niemann–Pick type C disease. Traffic. 2010;11(4):419–28.Google Scholar
Vanier, MT. Complex lipid trafficking in Niemann–Pick disease type C. J Inherit Metab Dis. 2015;38(1):187–99.Google Scholar
Higashi, Y, Murayama, S, Pentchev, PG, Suzuki, K. Cerebellar degeneration in the Niemann–Pick type C mouse. Acta Neuropathol. 1993;85(2):175–84.Google Scholar
Vanier, MT. Prenatal diagnosis of Niemann–Pick diseases types A, B and C. Prenat Diagn. 2002;22(7):630–2.CrossRefGoogle ScholarPubMed
Sarna, JR, Larouche, M, Marzban, H, et al. Patterned Purkinje cell degeneration in mouse models of Niemann–Pick type C disease. J Comp Neurol. 2003;456(3):279–91.Google Scholar
Luan, Z, Saito, Y, Miyata, H, et al. Brainstem neuropathology in a mouse model of Niemann–Pick disease type C. J Neurol Sci. 2008;268(1–2):108–16.Google Scholar
Paul, CA, Boegle, AK, Maue, RA. Before the loss: Neuronal dysfunction in Niemann–Pick type C disease. Biochim Biophys Acta. 2004;1685(1–3):63–76.Google Scholar
Zafeiriou, DI, Triantafyllou, P, Gombakis, NP, et al. Niemann–Pick type C disease associated with peripheral neuropathy. Pediatr Neurol. 2003;29(3):242–4.CrossRefGoogle ScholarPubMed
Chien, YH, Lee, NC, Tsai, LK, 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(5):826.Google Scholar
Bagel, JH, Sikora, TU, Prociuk, M, et al. Electrodiagnostic testing and histopathologic changes confirm peripheral nervous system myelin abnormalities in the feline model of Niemann–Pick disease type C. J Neuropathol Exp Neurol. 2013;72(3):256–62.Google Scholar
Ebrahimi-Fakhari, D, Hildebrandt, C, Davis, PE, et al. The spectrum of movement disorders in childhood-onset lysosomal storage diseases. Mov Disord Clin Pract. 2018;5(2):149–55.Google Scholar
Salsano, E, Umeh, C, Rufa, A, Pareyson, D, Zee, DS. Vertical supranuclear gaze palsy in Niemann–Pick type C disease. Neurol Sci. 2012;33(6):1225–32.Google Scholar
Solomon, D, Winkelman, AC, Zee, DS, Gray, L, Buttner-Ennever, J. Niemann–Pick type C disease in two affected sisters: Ocular motor recordings and brain-stem neuropathology. Ann N Y Acad Sci. 2005;1039:436–45.Google Scholar
Crespi, J, Brathen, G, Quist-Paulsen, P, Pagonabarraga, J, Roig-Arnall, C. Facial dystonia with facial grimacing and vertical gaze palsy with “round the houses” sign in a 29-year-old woman. Neuroophthalmology. 2016;40(1):31–4.Google Scholar
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(9):765–72.Google Scholar
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(12):1083–6.CrossRefGoogle ScholarPubMed
Abel, LA, Bowman, EA, Velakoulis, D, et al. Saccadic eye movement characteristics in adult Niemann–Pick Type C disease: Relationships with disease severity and brain structural measures. PLoS One. 2012;7(11):e50947.Google Scholar
Stein, VM, Crooks, A, Ding, W, et al. Miglustat improves Purkinje cell survival and alters microglial phenotype in feline Niemann–Pick disease type C. J Neuropathol Exp Neurol. 2012;71(5):434–48.Google Scholar
Zesiewicz, TA, Wilmot, G, Kuo, SH, et al. Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia. Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Neurology. 2018;90(10):464–71.CrossRefGoogle Scholar
Geberhiwot, T, Moro, A, Dardis, A, et al. Consensus clinical management guidelines for Niemann–Pick disease type C. Orphanet J Rare Dis. 2018;13:50.CrossRefGoogle ScholarPubMed
Ferber-Viart, C, Dubreuil, C, Vidal, PP. Effects of acetyl-DL-leucine in vestibular patients: A clinical study following neurotomy and labyrinthectomy. Audiol Neurootol. 2009;14(1):17–25.Google Scholar
Highstein, SM, Holstein, GR. The anatomy of the vestibular nuclei. Prog Brain Res. 2006;151:157–203.CrossRefGoogle ScholarPubMed
Strupp, M, Teufel, J, Habs, M, Feuerecker, R, Muth, C, van de Warrenburg, BP, et al. Effects of acetyl-DL-leucine in patients with cerebellar ataxia: A case series. J Neurol. 2013;260(10):2556–61.CrossRefGoogle ScholarPubMed
Pelz, JO, Fricke, C, Saur, D, Classen, J. Failure to confirm benefit of acetyl-DL-leucine in degenerative cerebellar ataxia: A case series. J Neurol. 2015;262(5):1373–5.Google Scholar
Bremova, T, Malinova, V, Amraoui, Y, et al. Acetyl-DL-leucine in Niemann–Pick type C: A case series. Neurology. 2015;85(16):1368–75.Google Scholar
Abe, K, Sakai, N. Patient with Niemann–Pick disease type C: Over 20 years’ follow-up. BMJ Case Rep. 2017;2017.Google ScholarPubMed
Anheim, M, Lagha-Boukbiza, O, Fleury-Lesaunier, MC, et al. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann–Pick C disease. J Neurol. 2014;261(1):174–9.Google Scholar
Vankova, J, Stepanova, I, Jech, R, et al. Sleep disturbances and hypocretin deficiency in Niemann–Pick disease type C. Sleep. 2003;26(4):427–30.CrossRefGoogle ScholarPubMed
Josephs, KA, Van Gerpen, MW, Van Gerpen, JA. Adult onset Niemann–Pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry. 2003;74(4):528–9.Google Scholar
Koens, LH, Kuiper, A, Coenen, MA, et al. Ataxia, dystonia and myoclonus in adult patients with Niemann–Pick type C. Orphanet J Rare Dis. 2016;11:121.Google Scholar
Floyd, AG, Yu, QP, Piboolnurak, P, et al. Kinematic analysis of motor dysfunction in Niemann–Pick type C. Clin Neurophysiol. 2007;118(5):1010–8.Google Scholar
Hsu, AW, Piboolnurak, PA, Floyd, AG, et al. Spiral analysis in Niemann–Pick disease type C. Mov Disord. 2009;24(13):1984–90.CrossRefGoogle ScholarPubMed
Pineda, M, Wraith, JE, Mengel, E, et al. Miglustat in patients with Niemann–Pick disease type C (NP–C): A multicenter observational retrospective cohort study. Mol Genet Metab. 2009;98(3):243–9.Google Scholar
Patterson, MC, Vecchio, D, Jacklin, E, et al. Long-term miglustat therapy in children with Niemann–Pick disease type C. J Child Neurol. 2010;25(3):300–5.CrossRefGoogle ScholarPubMed
Scheel, M, Abegg, M, Lanyon, LJ, Mattman, A, Barton, JJ. Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann–Pick type C patient. Mol Genet Metab. 2010;99(3):291–5.Google Scholar
Wraith, JE, Vecchio, D, Jacklin, E, 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(4):351–7.Google Scholar
Heron, B, Valayannopoulos, V, Baruteau, J, et al. Miglustat therapy in the French cohort of paediatric patients with Niemann–Pick disease type C. Orphanet J Rare Dis. 2012;7:36.Google Scholar
Abel, LA, Walterfang, M, Stainer, MJ, Bowman, EA, Velakoulis, D. Longitudinal assessment of reflexive and volitional saccades in Niemann–Pick type C disease during treatment with miglustat. Orphanet J Rare Dis. 2015;10:160.Google Scholar
Patterson, MC, Mengel, E, Vanier, MT, et al. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann–Pick disease type C: An observational cohort study. Orphanet J Rare Dis. 2015;10:65.Google Scholar
Sedel, F, Chabrol, B, Audoin, B, et al. Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat. J Neurol. 2016;263(5):927–36.CrossRefGoogle ScholarPubMed
Liu, B, Turley, SD, Burns, DK, et al. Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the NPC1-/- mouse. Proc Natl Acad Sci USA. 2009;106(7):2377–82.Google Scholar
Davidson, CD, Ali, NF, Micsenyi, MC, et al. Chronic cyclodextrin treatment of murine Niemann–Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One. 2009;4(9):e6951.CrossRefGoogle ScholarPubMed
Vite, CH, Bagel, JH, Swain, GP, et al. Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann–Pick type C1 disease. Sci Transl Med. 2015;7(276):276ra26.Google Scholar
Berry-Kravis, E, Chin, J, Hoffmann, A, et al. Long-term treatment of Niemann–Pick type C1 disease with intrathecal 2-hydroxypropyl-beta-cyclodextrin. Pediatr Neurol. 2018;80:24–34.Google Scholar