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Chapter 1 - Phenomenology, classification, and diagnostic approach to patients with movement disorders

from Section I - General principles

Published online by Cambridge University Press:  05 April 2014

Marjolein B. Aerts
Department of Neurology and Parkinson Centre Nijmegen, Donders Institute for Brain Cognition & Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
Joseph Jankovic
Baylor College of Medicine, Texas
Bart P. van de Warrenburg
Department of Neurology and Parkinson Centre Nijmegen, Donders Institute for Brain Cognition & Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
Bastiaan R. Bloem
Department of Neurology and Parkinson Centre Nijmegen, Donders Institute for Brain Cognition & Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
Werner Poewe
Medical University Innsbruck
Joseph Jankovic
Baylor College of Medicine, Texas
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In this introductory chapter, we will discuss the phenomenology of movement disorders and its importance in classification and diagnostic work-up in patients presenting with one or more types of movement disorders. We will place great emphasis on the most important step in this diagnostic process, which is the clinical approach based on recognition of the phenomenologic characteristics of the movement disorder. An accurate clinical description and adequate recognition of the type of movement disorder (or multiple types, as is often the case) in turn forms the basis for a tailored set of ancillary investigations to confirm the clinical suspicion. Thanks to rapid technological advancements (for example, in the fields of genetics and functional imaging), clinicians now have a battery of advanced ancillary investigations at their disposal. In this chapter, we will discuss the rational use of some of the most commonly required tests. However, we should point out that the clinical pattern recognition remains the vital starting point for any diagnostic approach, and that many ancillary investigations offer relatively little added value over and above the diagnostic accuracy of a clinical neurological examination (Constantinescu et al. 2009; Seppi and Schocke 2005; Morris and Jankovic 2012).

Publisher: Cambridge University Press
Print publication year: 2014

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Abdo, W. F., van de Warrenburg, B. P., Burn, D. J., Quinn, N. P., and Bloem, B. R. (2010). “The clinical approach to movement disorders,” Nat. Rev. Neurol. 6(1): 29–37.CrossRefGoogle ScholarPubMed
Aerts, M. B., Esselink, R. A., Bloem, B. R., and Verbeek, M. M. (2011a). “Cerebrospinal fluid tau and phosphorylated tau protein are elevated in corticobasal syndrome,” Mov. Disord. 26(1): 169–73.CrossRefGoogle ScholarPubMed
Aerts, M. B., Esselink, R. A., Claassen, J. A., Abdo, W. F., Bloem, B. R., and Verbeek, M. M. (2011b). “CSF tau, Abeta42, and MHPG differentiate dementia with Lewy bodies from Alzheimer’s disease,” J. Alzheimers Dis. 27(2): 377–84.CrossRefGoogle ScholarPubMed
Aerts, M. B., Esselink, R. A., Post, B., van de Warrenburg, B. P., and Bloem, B. R. (2012). “Improving the diagnostic accuracy in parkinsonism: a three-pronged approach,” Pract. Neurol. 12(2): 77–87.CrossRefGoogle ScholarPubMed
Albanese, A., Bhatia, K., Bressman, S. B., Delong, M. R., Fahn, S., Fung, V. S., et al. (2013). “Phenomenology and classification of dystonia: a consensus update,” Mov. Disord. 28(7): 863–73.CrossRefGoogle ScholarPubMed
Albanese, A. and Jankovic, J. (2012). Hyperkinetic Movement Disorders. (Oxford: Wiley-Blackwell).Google Scholar
Ashoori, A. and Jankovic, J. (2008). “Mozart’s movements and behaviour: a case of Tourette’s syndrome?,” Postgrad. Med. J. 84(992): 313–17.CrossRefGoogle ScholarPubMed
Baizabal-Carvallo, J. F. and Jankovic, J. (2012). “Movement disorders in autoimmune diseases,” Mov. Disord. 27(8): 935–46.CrossRefGoogle ScholarPubMed
Baizabal-Carvallo, J. F., Stocco, A., Muscal, E., and Jankovic, J. (2013). “The spectrum of movement disorders in children with anti-NMDA receptor encephalitis,” Mov. Disord. (in press).CrossRef
Bhatia, K. P. (2011). “Paroxysmal dyskinesias,” Mov. Disord. 26(6): 1157–65.CrossRefGoogle ScholarPubMed
Brooks, D. J. (2010). “Imaging dopamine transporters in Parkinson’s disease,” Biomark Med. 4(5): 651–60.CrossRefGoogle ScholarPubMed
Cheng, E. M., Tonn, S., Swain-Eng, R., Factor, S. A., Weiner, W. J., and Bever, C. T. (2010). “Quality improvement in neurology: AAN Parkinson disease quality measures: report of the Quality Measurement and Reporting Subcommittee of the American Academy of Neurology,” Neurology, 75(22): 2021–7.CrossRefGoogle ScholarPubMed
Constantinescu, R., Zetterberg, H., Holmberg, B., and Rosengren, L. (2009). “Levels of brain related proteins in cerebrospinal fluid: an aid in the differential diagnosis of parkinsonian disorders,” Parkinsonism Relat. Disord. 15(3): 205–12.CrossRefGoogle ScholarPubMed
Corbett, M. A., Schwake, M., Bahlo, M., Dibbens, L. M., Lin, M., Gandolfo, L. C., et al. (2011). “A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia,” Am. J. Hum. Genet. 88(5): 657–63.CrossRefGoogle ScholarPubMed
Daniel, S. E. and Lees, A. J. (1993). “Parkinson’s Disease Society Brain Bank, London: overview and research,” J. Neural Transm. Suppl. 39: 165–72.Google Scholar
Deuschl, G., Bain, P., and Brin, M. (1998). “Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee,” Mov. Disord. 13(3): 2–23.CrossRefGoogle ScholarPubMed
Dhungana, S. and Jankovic, J. (2013). “Yips and other movement disorders in golfers,” Mov. Disord. 28: 576–81.CrossRefGoogle ScholarPubMed
Dusek, P., Jankovic, J., and Le, W. (2012). “Iron dysregulation in movement disorders,” Neurobiol. Dis. 46(1): 1–18.CrossRefGoogle ScholarPubMed
Edwards, M. J. and Bhatia, K. P. (2012). “Functional (psychogenic) movement disorders: merging mind and brain,” Lancet Neurol. 11(3): 250–60.CrossRefGoogle ScholarPubMed
Elble, R. and Deuschl, G. (2011). “Milestones in tremor research,” Mov. Disord. 26(6): 1096–105.CrossRefGoogle ScholarPubMed
Fahn, S., Jankovic, J., and Hallett, M. (2011). Principles and Practice of Movement Disorders (Philadelphia, PA: Churchill Livingstone, Elsevier), pp. 1–548.Google Scholar
Hallett, M., Lang, A. E., Jankovic, J., Fahn, S., Halligan, P. W., Voon, V., et al. (2011). Psychogenic Movement Disorders and Other Conversion Disorders (Cambridge University Press).Google Scholar
Jankovic, J. (2008). “Parkinson’s disease: clinical features and diagnosis,” J. Neurol. Neurosurg. Psychiatry 79: 368–76.CrossRefGoogle ScholarPubMed
Jankovic, J. (2011). “Diagnosis and treatment of psychogenic parkinsonism,” J. Neurol. Neurosurg. Psychiatry 82(12): 1300–3.CrossRefGoogle ScholarPubMed
Jankovic, J. and Kurlan, R. (2011). “Tourette syndrome: evolving concepts,” Mov. Disord. 26(6): 1149–56.CrossRefGoogle ScholarPubMed
Jankovic, J., Schwartz, K. S., and Ondo, W. (1999). “Re-emergent tremor of Parkinson’s disease,” J. Neurol. Neurosurg. Psychiatry 67(5): 646–50.CrossRefGoogle ScholarPubMed
Klein, C. and Ozelius, L. J. (2002). “Dystonia: clinical features, genetics, and treatment,” Curr. Opin. Neurol. 15(4): 491–7.CrossRefGoogle Scholar
Köllensperger, M., Geser, F., Seppi, K., Stampfer-Kountchev, M., Sawires, M., Scherfler, C., et al. (2008). “Red flags for multiple system atrophy,” Mov. Disord. 23(8): 1093–9.CrossRefGoogle ScholarPubMed
Lance, J. W. (1986). “Action myoclonus, Ramsay Hunt syndrome, and other cerebellar myoclonic syndromes,” Adv. Neurol. 43: 33–55.Google ScholarPubMed
Lozsadi, D. (2012). “Myoclonus: a pragmatic approach,” Pract. Neurol. 12(4): 215–24.CrossRefGoogle ScholarPubMed
Mahlknecht, P., Hotter, A., Hussl, A., Esterhammer, R., Schocke, M., and Seppi, K. (2010). “Significance of MRI in diagnosis and differential diagnosis of Parkinson’s disease,” Neurodegener. Dis. 7(5): 300–18.CrossRefGoogle ScholarPubMed
Marras, C., Lohmann, K., Lang, A., and Klein, C. (2012). “Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples,” Neurology 78(13): 1016–24.CrossRefGoogle ScholarPubMed
Mehanna, R. and Jankovic, J. (2013a). “Movement disorders in cerebrovascular disease,” Lancet Neurol. 12(6): 597–608.CrossRefGoogle ScholarPubMed
Mehanna, R. and Jankovic, J. (2013b). “Movement disorders in multiple sclerosis and other demyelinating diseases,” J. Neurol. Sci. 328(1–2): 1–8.CrossRefGoogle ScholarPubMed
Morris, J. and Jankovic, J. (2012). Neurological Clinical Examination (London: Hodder Arnold).Google Scholar
Morris, J. G., Jankelowitz, S. K., Fung, V. S., Clouston, P. D., Hayes, M. W., and Grattan-Smith, P. (2002). “Athetosis I: historical considerations,” Mov. Disord. 17(6): 1278–80.CrossRefGoogle ScholarPubMed
Nicoletti, G., Lodi, R., Condino, F., Tonon, C., Fera, F., Malucelli, E., et al. (2006). “Apparent diffusion coefficient measurements of the middle cerebellar peduncle differentiate the Parkinson variant of MSA from Parkinson’s disease and progressive supranuclear palsy,” Brain 129(Pt. 10): 2679–87.CrossRefGoogle ScholarPubMed
Nicoletti, G., Tonon, C., Lodi, R., Condino, F., Manners, D., Malucelli, E., et al. (2008). “Apparent diffusion coefficient of the superior cerebellar peduncle differentiates progressive supranuclear palsy from Parkinson’s disease,” Mov. Disord. 23(16): 2370–6.CrossRefGoogle ScholarPubMed
Nygaard, T. G. (1995). “Dopa-responsive dystonia,” Curr. Opin. Neurol. 8(4): 310–13.CrossRefGoogle ScholarPubMed
Ozelius, L. J., Lubarr, N., and Bressman, S. B. (2011). “Milestones in dystonia,” Mov. Disord. 26(6): 1106–26.CrossRefGoogle ScholarPubMed
Patel, N., Jankovic, J., and Hallett, M. (2013) “Sensory aspects of movement disorders,” Lancet Neurol. (in press).
Paviour, D. C., Thornton, J. S., Lees, A. J., and Jäger, H. R. (2007). “Diffusion-weighted magnetic resonance imaging differentiates Parkinsonian variant of multiple-system atrophy from progressive supranuclear palsy,” Mov. Disord. 22(1): 68–74.CrossRefGoogle ScholarPubMed
Pita Lobo, P., Quattrocchi, G., Jutras, M. F., Sangla, S., Apartis, E., Vidailhet, M., et al. (2013), “Primary writing tremor and writer’s cramp: Two faces of a same coin?,” Mov. Disord. 28(9): 1306–7.CrossRefGoogle ScholarPubMed
Schneider, S. A., Dusek, P., Hardy, J., Westenberger, A., Jankovic, J., Bhatia, K. (2013). “Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA),” Curr. Neuropharmacol. 11: 59–79.Google Scholar
Seppi, K. and Schocke, M. F. (2005). “An update on conventional and advanced magnetic resonance imaging techniques in the differential diagnosis of neurodegenerative parkinsonism,” Curr. Opin. Neurol. 18(4): 370–5.CrossRefGoogle ScholarPubMed
Seppi, K., Schocke, M. F., Esterhammer, R., Kremser, C., Brenneis, C., Mueller, J., et al. (2003). “Diffusion-weighted imaging discriminates progressive supranuclear palsy from PD, but not from the parkinson variant of multiple system atrophy,” Neurology 60(6): 922–7.CrossRefGoogle Scholar
Sitburana, O., Wu, L. J., Sheffield, J. K., Davidson, A., and Jankovic, J. (2009). “Motor overflow and mirror dystonia,” Parkinsonism Relat. Disord. 15: 758–61.CrossRefGoogle ScholarPubMed
Stebbins, G. T., Goetz, C. G., Burn, D. J., Jankovic, J., Khoo, T. K., and Tilley, B. C. (2013). “How to identify tremor dominant and postural instability/gait difficulty groups with the Movement Disorder Society Unified Parkinson’s Disease Rating Scale: Comparison with the Unified Parkinson’s Disease Rating Scale,” Mov. Disord. (in press).CrossRef
Stern, M. B., Lang, A., and Poewe, W. (2012). “Toward a redefinition of Parkinson’s disease,” Mov. Disord. 27(1): 54–60.CrossRefGoogle Scholar
van Gaalen, J., Giunti, P., and van de Warrenburg, B. P. (2011). “Movement disorders in spinocerebellar ataxias,” Mov. Disord. 26(5): 792–800.CrossRefGoogle ScholarPubMed
Walker, R. H. (2011). “Differential diagnosis of chorea,” Curr. Neurol. Neurosci. Rep. 11(4): 385–95.CrossRefGoogle ScholarPubMed
Waln, O. and Jankovic, J. (2013). “An update on tardive dyskinesia. Tremor and Other Hyperkinetic Disorders,” Tremor & Other Hyperkinet. Mov. 3, .Google Scholar
Williams, E. R., Jones, R. E., Baker, S. N., Baker, M. R. (2010). “Slow orthostatic tremor can persist when walking backward,” Mov. Disord. 25(6): 795–7.CrossRefGoogle ScholarPubMed
Yaltho, T. C. and Jankovic, J. (2011). “The many faces of hemifacial spasm: differential diagnosis of unilateral facial spasms,” Mov. Disord. 26(9): 1582–92.CrossRefGoogle ScholarPubMed
Zinner, S. H. and Mink, J. W. (2010). “Movement disorders I: tics and stereotypies,” Pediatr. Rev. 31(6): 223–33.CrossRefGoogle ScholarPubMed

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