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3 - Primary or Idiopathic Dystonias (‘Isolated Dystonia’)

from Section I - Basics

Published online by Cambridge University Press:  31 May 2018

Dirk Dressler
Hannover Medical School
Eckart Altenmüller
Hochschule für Musik, Theater und Medien, Hannover
Joachim K. Krauss
Hannover Medical School
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Treatment of Dystonia , pp. 15 - 19
Publisher: Cambridge University Press
Print publication year: 2018

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Albanese, A, Bhatia, K, Bressman, SB, et al. 2013. Phenomenology and classification of dystonia: a consensus update. Mov Disord 28(7):863873.CrossRefGoogle ScholarPubMed
Bhatia, KP, Quinn, NP, Marsden, CD. 1997. Clinical features and natural history of axial predominant adult onset primary dystonia. J Neurol Neurosurg Psychiatry 63(6):788791.CrossRefGoogle ScholarPubMed
Bressman, S. 2006. Genetics of dystonia. J Neural Transm Suppl 70:489495.CrossRefGoogle Scholar
Charlesworth, G, Plagnol, V, Holmström, KM, et al. 2012. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 91(6):10411050.CrossRefGoogle ScholarPubMed
Charlesworth, G, Angelova, PR, Bartolome-Robledo, F, et al. 2015. Mutations in HPCA cause autosomal-recessive primary isolated dystonia. Am J Hum Genet 96:657665.CrossRefGoogle ScholarPubMed
Dufke, C, Hauser, AK, Sturm, M, Fluhr, S, Wächter, T, Leube, B, Auburger, G, Ott, T, Bauer, P, Gasser, T, Grundmann, K. 2015. Mutations in CIZ1 are not a major cause for dystonia in Germany. Mov Disord 30(5):740743.CrossRefGoogle ScholarPubMed
Fuchs, T, Gavarini, S, Saunders-Pullman, R, Raymond, D, Ehrlich, ME, Bressman, SB, et al. 2009. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 41:286288.CrossRefGoogle ScholarPubMed
Fuchs, T, Saunders-Pullman, R, Masuho, I, et al. 2012. Mutations in GNAL cause primary torsion dystonia. Nat Genet 45(1):8892.CrossRefGoogle ScholarPubMed
Martino, D, Gajos, A, Gallo, V, et al. 2013. Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study. J Neurol 260(4):10811086.CrossRefGoogle ScholarPubMed
Müller, J, Kiechl, S, Wenning, GK, et al. 2002. The prevalence of primary dystonia in the general community. Neurology 59(6):941943.CrossRefGoogle ScholarPubMed
Nutt, JG, Muenter, MD, Aronson, A, Kurland, LT, Melton, LJ 3rd. 1988. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord 3(3):188194.CrossRefGoogle ScholarPubMed
Risch, NJ, Bressman, SB, Senthil, G, Ozelius, LJ. 2007. Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 80(6):11881193.CrossRefGoogle ScholarPubMed
Rubio-Agusti, I, Pareés, I, Kojovic, M, Stamelou, M, Saifee, TA, Charlesworth, G, Sheerin, UM, Edwards, MJ, Bhatia, KP. 2013. Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort. Parkinsonism Relat Disord 19(6):634638.CrossRefGoogle ScholarPubMed
Schneider, SA, Aggarwal, A, Bhatt, M, Dupont, E, Tisch, S, Limousin, P, Lee, P, Quinn, N, Bhatia, KP. 2006. Severe tongue protrusion dystonia: clinical syndromes and possible treatment. Neurology 67(6):940943.CrossRefGoogle ScholarPubMed
Sheehy, MP, Rothwell, JC, Marsden, CD. 1988. Writer’s cramp. Adv Neurol 50:457472.Google ScholarPubMed
Stamelou, M, Edwards, MJ, Hallett, M, Bhatia, KP. 2012. The non-motor syndrome of primary dystonia: clinical and pathophysiological implications. Brain 135(Pt 6):16681681.CrossRefGoogle ScholarPubMed
Xiao, J, Uitti, RJ, Zhao, Y, et al. 2012. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol 71(4):458469.CrossRefGoogle ScholarPubMed
Xiromerisiou, G, Houlden, H, Scarmeas, N, et al. 2012. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord 27(10):12901294.CrossRefGoogle ScholarPubMed
Zech, M, Lam, DD, Francescatto, L, et al. 2015. Recessive mutations in the a3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Am J Hum Genet 96(6):883893.CrossRefGoogle Scholar

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