Skip to main content Accessibility help
×
Hostname: page-component-76fb5796d-2lccl Total loading time: 0 Render date: 2024-04-26T06:31:57.403Z Has data issue: false hasContentIssue false

Section 1 - Parkinsonism

Published online by Cambridge University Press:  04 July 2017

Kailash P. Bhatia
Affiliation:
Institute of Neurology, University College London
Roberto Erro
Affiliation:
Università degli Studi di Salerno, Italy
Maria Stamelou
Affiliation:
University of Athens, Greece
Get access

Summary

Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Case Studies in Movement Disorders
Common and Uncommon Presentations
, pp. 1 - 37
Publisher: Cambridge University Press
Print publication year: 2017

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Suggested Readings

Berardelli, A, Wenning, GK, Antonini, A et al. EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson’s disease. Eur J Neurol. 2013;20:1634.CrossRefGoogle ScholarPubMed
Hughes, AJ, Daniel, SE, Kilford, L, Lees, AJ. Accuracy of clinical diagnosis of idiopathic Parkinson’s disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry. 1992;55:181–4.CrossRefGoogle ScholarPubMed
Postuma, RB, Berg, D, Stern, M et al. MDS clinical diagnostic criteria for Parkinson’s disease. Mov Disord. 2015;30:1591–601.CrossRefGoogle ScholarPubMed
Quinn, NP, Schneider, SA, Schwingenschuh, P, Bhatia, KP. Tremor – some controversial aspects. Mov Disord. 2011;26:1823.CrossRefGoogle ScholarPubMed

Suggested Readings

Berg, D, Postuma, RB, Adler, CH, et al. MDS research criteria for prodromal Parkinson's disease. Mov Disord. 2015;30:1600–11.CrossRefGoogle ScholarPubMed
Chahine, LM, Stern, MB. Characterizing premotor Parkinson’s disease: clinical features and objective markers. Mov Disord Clin Pract. 2014;1:299306.CrossRefGoogle ScholarPubMed
Erro, R, Picillo, M, Vitale, C, et al. Non-motor symptoms in early Parkinson’s disease: a 2-year follow-up study on previously untreated patients. J Neurol Neurosurg Psychiatry. 2013;84:14–7.CrossRefGoogle ScholarPubMed

Suggested Readings

Elia, AE, Del Sorbo, F, Romito, LM, Barzaghi, C, Garavaglia, B, Albanese, A. Isolated limb dystonia as presenting feature of Parkin disease. J Neurol Neurosurg Psychiatry. 2014;85:827–8.CrossRefGoogle ScholarPubMed
Erro, R, Stamelou, M, Ganos, C, et al. The clinical syndrome of paroxysmal exercise-induced dystonia: diagnostic outcomes and an algorithm. Mov Disord Clin Pract. 2014;1:5761.CrossRefGoogle ScholarPubMed
Khan, NL, Graham, E, Critchley, P, et al. Parkin disease: a phenotypic study of a large case series. Brain. 2003;126:1279–92.CrossRefGoogle ScholarPubMed

Suggested Readings

Papadimitriou, D, Antonelou, R, Miligkos, M, et al. Motor and non-motor features of carriers of the p.A53T alpha-synuclein mutation: a longitudinal study. Mov Disord, 2016.;31:1226–30.CrossRefGoogle Scholar
Ricciardi, L, Petrucci, S, Di Giuda, D, et al. The Contursi family 20 years later: intrafamilial phenotypic variability of the SNCA p.A53T mutation. Mov Disord. 2016;31:257–8.CrossRefGoogle ScholarPubMed

Suggested Readings

Hauw, JJ, Daniel, SE, Dickson, D, et al. Preliminary NINDS neuropathologic criteria for Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy). Neurology. 1994;44:2015–19.CrossRefGoogle ScholarPubMed
Litvan, I, Agid, Y, Jankovic, J, et al. Accuracy of clinical criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome). Neurology. 1996;46:922–30.CrossRefGoogle ScholarPubMed
Papapetropoulos, S, Gonzalez, J, Mash, DC. Natural history of progressive supranuclear palsy: a clinicopathologic study from a population of brain donors. Eur Neurol. 2005;54:19.CrossRefGoogle ScholarPubMed

Suggested Readings

Ling, H, Massey, LA, Lees, AJ, Brown, P, Day, BL. Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson’s disease. Brain. 2012;135:1141–53.CrossRefGoogle ScholarPubMed
Williams, DR, Lees, AJ. Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges. Lancet Neurology. 2009;8:270–9.CrossRefGoogle ScholarPubMed
Williams, DR, de Silva, R, Paviour, DC, et al. Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson’s syndrome and PSP-parkinsonism. Brain. 2005;128:1247–58.CrossRefGoogle ScholarPubMed

Suggested Readings

Armstrong, MJ, Litvan, I, Lang, AE, et al. Criteria for the diagnosis of corticobasal degeneration. Neurology. 2013;80:496503.CrossRefGoogle ScholarPubMed
Kouri, N, Whitwell, JL, Josephs, KA, et al. Corticobasal degeneration: a pathologically distinct 4R tauopathy. Nat Rev Neurol. 2011;7:263–72.CrossRefGoogle Scholar
Ling, H, O’Sullivan, S, Holton, JL, et al. Does corticobasal degeneration exist? A clinicopathological re-evaluation. Brain. 2010;133:2045–57.CrossRefGoogle ScholarPubMed
Mathew, R, Bak, TH, Hodges, JR. Diagnostic criteria for corticobasal syndrome: a comparative study. J Neurol Neurosurg Psychiatry. 2012;8:400–5.Google Scholar

Suggested Readings

Gilman, S, Wenning, GK, Low, PA, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology. 2008;71:670–6.CrossRefGoogle ScholarPubMed
Jecmenica-Lukic, M, Poewe, W, Tolosa, E, Wenning, GK. Premotor signs and symptoms of multiple system atrophy. Lancet Neurol. 2012;11:361–8.CrossRefGoogle ScholarPubMed
Ozawa, T, Paviour, D, Quinn, NP, et al. The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations. Brain. 2004;127:2657–71.CrossRefGoogle ScholarPubMed
Petrovic, IN, Ling, H, Asi, Y, et al. Multiple system atrophy-parkinsonism with slow progression and prolonged survival: a diagnostic catch. Movement Disorders. 2012;27:1186–90.CrossRefGoogle ScholarPubMed
Stefanova, N, Bücke, P, Duerr, S, Wenning, GK. Multiple system atrophy: an update. Lancet Neurol. 2009;8:1172–8.CrossRefGoogle ScholarPubMed

Suggested Readings

Tadic, V, Westenberger, A, Domingo, A, Alvarez-Fischer, D, Klein, C, Kasten, M. Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. JAMA Neurol. 2015 Feb. 16. doi: 10.1001/jamaneurol.2014.3889.CrossRefGoogle ScholarPubMed
Taglia, I, Mignarri, A, Olgiati, S, et al. Primary familial brain calcification: genetic analysis and clinical spectrum. Mov Disord. 2014;29:1691–5.CrossRefGoogle ScholarPubMed

Suggested Readings

Perry, TL, Wright, JM, Berry, K, Hansen, S, Perry, TL Jr. Dominantly inherited apathy, central hypoventilation, and Parkinson’s syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases. Neurology. 1990;40:1882–7.CrossRefGoogle ScholarPubMed
Stamelou, M, Quinn, NP, Bhatia, KP. ‘Atypical’ parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy. Mov Disord. 2013;28(9):1184–99.CrossRefGoogle ScholarPubMed
Wider, C, Dachsel, JC, Farrer, MJ, Dickson, DW, Tsuboi, Y, Wszolek, ZK. Elucidating the genetics and pathology of Perry syndrome. J Neurol Sci. 2010;289:149–54.CrossRefGoogle ScholarPubMed

Suggested Readings

Aggarwal, A, Bhatt, M. The pragmatic treatment of Wilson’s disease. Mov Disord Clin Pract. 2014;1(1):1423.CrossRefGoogle ScholarPubMed
Compston, A. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by SA Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London). Brain. 1912:34;295509. Brain. 2009;132:19972001.Google Scholar
Lorincz, MT. Recognition and treatment of neurologic Wilson’s disease. Semin Neurol. 2012;32(5):538–43.Google ScholarPubMed

Suggested Readings

Baizabal-Carvallo, JF, Jankovic, J. Parkinsonism, movement disorders and genetics in frontotemporal dementia. Nat. Rev. Neurol. 2016;12:175–85.CrossRefGoogle ScholarPubMed
Galimberti, D, Scarpini, E. Clinical phenotypes and genetic biomarkers of FTLD. J Neural Transm. 2012;119(7):851–60.CrossRefGoogle ScholarPubMed
Siuda, J, Fujioka, S, Wszolek, ZK. Parkinsonian syndrome in familial frontotemporal dementia. Parkinsonism Relat. Disord. 2014;20(9):957–64.CrossRefGoogle ScholarPubMed

Suggested Readings

Moccia, M, Mosca, L, Erro, R, et al. Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features. Neurobiol Aging. 2015;36(1):547.e5–11.CrossRefGoogle Scholar
Ragno, M, Berbellini, A, Cacchiò, G, et al. Parkinsonism is a late, not rare, feature of CADASIL. Stroke. 2013;44(4):1147–9.CrossRefGoogle Scholar
Stamelou, M, Quinn, NP, Bhatia, KP. ‘Atypical’ atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy. Mov Disord. 2013;28(9):1184–99.CrossRefGoogle ScholarPubMed

Suggested Readings

Nance, MA, Myers, RH. Juvenile onset Huntington’s disease-clinical and research perspectives. Ment Retard Dev Disabil Res Rev. 2001;7:153–7.Google ScholarPubMed
Rasmussen, A, Marcias, R, Yescas, P, Ochoa, A, Davila, G, Alonso, E. Huntington disease in children. Genotype-phenotype correlation. Neuropediatrics. 2000;31:190–4.CrossRefGoogle ScholarPubMed

Suggested Readings

Sundal, C, Fujioka, S, Van Gerpen, JA, et al. Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism Relat Disord. 2013;19:869–77.CrossRefGoogle ScholarPubMed
Guerreiro, R, Kara, E, Le Ber, I et al. Genetic analysis of inherited leukodystrophies: Genotype–phenotype correlations in the CSF1R gene. JAMA Neurol. 2013;70:875–82.CrossRefGoogle ScholarPubMed
Sundal, C, Van Gerpen, JA, Nicholson, AM et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology. 2012;79:566–74.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×