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Section 1 - Parkinsonism

Published online by Cambridge University Press:  04 July 2017

Kailash P. Bhatia ,
Roberto Erro  and
Maria Stamelou
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
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Case Studies in Movement Disorders
Common and Uncommon Presentations
 , pp. 1 - 37
Publisher: Cambridge University Press
Print publication year: 2017

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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;20:16–34.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;26:18–23.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;1:299–306.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;1:57–61.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;54:1–9.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;80:496–503.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):14–23.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;295–509. Brain. 2009;132:1997–2001.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

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