Oppenheim H (1911) Uber Eine eigenartige Kramotkrankheit des Kindlichen und jugendlichen Alters (Dysbasia lordotica progressiva, Dystonia musculorum deformans). Neurologie Centralblatt.
Google Scholar
Phukan J, Albanese A, Gasser T, Warner T: Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis. Lancet Neurol 2011, 10(12):1074–1085. 10.1016/S1474-4422(11)70232-0
Article
PubMed
Google Scholar
Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK: Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013, 28(7):863–873. 10.1002/mds.25475
Article
PubMed
PubMed Central
Google Scholar
Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, Schuback DE, Falk CT, Risch N, de Leon D: Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 1989, 2(5):1427–1434. 10.1016/0896-6273(89)90188-8
Article
CAS
PubMed
Google Scholar
Nutt JG, Muenter MD, Melton LJ 3rd, Aronson A, Kurland LT: Epidemiology of dystonia in Rochester, Minnesota. Adv Neurol 1988, 50: 361–365.
CAS
PubMed
Google Scholar
A prevalence study of primary dystonia in eight European countries J Neurol 2000, 247(10):787–792. 10.1007/s004150070094
Ozelius LJ, Lubarr N, Bressman SB: Milestones in dystonia. Mov Disord 2011, 26: 1106–1126. 10.1002/mds.23775
Article
PubMed
Google Scholar
Tarsy D, Simon DK: Dystonia. New Engl J Med 2006, 355(8):818–829. 10.1056/NEJMra055549
Article
CAS
PubMed
Google Scholar
Ozelius LJ, Bressman SB: Genetic and clinical features of primary torsion dystonia. Neurobiol Dis 2011, 42(2):127–135. 10.1016/j.nbd.2010.12.012
Article
PubMed
Google Scholar
Klein C, Brin MF, de Leon D, Limborska SA, Ivanova-Smolenskaya IA, Bressman SB, Friedman A, Markova ED, Risch NJ, Breakefield XO, Ozelius LJ: De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet 1998, 7(7):1133–1136. 10.1093/hmg/7.7.1133
Article
CAS
PubMed
Google Scholar
Bressman SB, de Leon D, Brin MF, Risch N, Burke RE, Greene PE, Shale H, Fahn S: Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol 1989, 26(5):612–620. 10.1002/ana.410260505
Article
CAS
PubMed
Google Scholar
Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, Burke RE, Hewett J, Hunt AL, Moskowitz C, Nygaard TG, Wilhelmsen C, Fahn S, Breakefield XO, Risch NJ, Bressman SB: The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet 1994, 55(3):468–475.
CAS
PubMed
PubMed Central
Google Scholar
Shashidharan P, Kramer BC, Walker RH, Olanow CW, Brin MF: Immunohistochemical localization and distribution of torsinA in normal human and rat brain. Brain Res 2000, 853(2):197–206. 10.1016/S0006-8993(99)02232-5
Article
CAS
PubMed
Google Scholar
Konakova M, Huynh DP, Yong W, Pulst SM: Cellular distribution of torsin A and torsin B in normal human brain. Arch Neurol 2001, 58(6):921–927. 10.1001/archneur.58.6.921
Article
CAS
PubMed
Google Scholar
Rostasy K, Augood SJ, Hewett JW, Leung JC, Sasaki H, Ozelius LJ, Ramesh V, Standaert DG, Breakefield XO, Hedreen JC: TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis 2003, 12(1):11–24. 10.1016/S0969-9961(02)00010-4
Article
CAS
PubMed
Google Scholar
Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO: The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997, 17(1):40–48. 10.1038/ng0997-40
Article
CAS
PubMed
Google Scholar
Granata A, Warner TT: The role of torsinA in dystonia. Eur J Neurol 2010, 17: 81–87. 10.1111/j.1468-1331.2010.03057.x
Article
PubMed
Google Scholar
Breakefield XO, Blood AJ, Li Y, Hallett M, Hanson PI, Standaert DG: The pathophysiological basis of dystonias. Nat Rev Neurosci 2008, 9(3):222–234. 10.1038/nrn2337
Article
CAS
PubMed
Google Scholar
Berardelli A, Rothwell JC, Hallett M, Thompson PD, Manfredi M, Marsden CD: The pathophysiology of primary dystonia. Brain 1998, 121(Pt 7):1195–1212. 10.1093/brain/121.7.1195
Article
PubMed
Google Scholar
Hallett M: Pathophysiology of dystonia. J Neural Transm Suppl 2006, 70: 485–488. 10.1007/978-3-211-45295-0_72
Article
PubMed
Google Scholar
Carbon M, Argyelan M, Habeck C, Ghilardi MF, Fitzpatrick T, Dhawan V, Pourfar M, Bressman SB, Eidelberg D: Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study. Brain 2010, 133(Pt 3):690–700. 10.1093/brain/awq017
Article
PubMed
PubMed Central
Google Scholar
Carbon M, Ghilardi MF, Argyelan M, Dhawan V, Bressman SB, Eidelberg D: Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study. Brain 2008, 131(Pt 1):146–154.
PubMed
Google Scholar
Paudel R, Hardy J, Revesz T, Holton JL, Houlden H: Review: genetics and neuropathology of primary pure dystonia. Neuropathol Appl Neurobiol 2012, 38(6):520–534. 10.1111/j.1365-2990.2012.01298.x
Article
CAS
PubMed
Google Scholar
Walker RH, Brin MF, Sandu D, Good PF, Shashidharan P: TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia. Neurology 2002, 58(1):120–124. 10.1212/WNL.58.1.120
Article
CAS
PubMed
Google Scholar
Furukawa Y, Hornykiewicz O, Fahn S, Kish SJ: Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation. Neurology 2000, 54(5):1193–1195. 10.1212/WNL.54.5.1193
Article
CAS
PubMed
Google Scholar
Augood SJ, Keller-McGandy CE, Siriani A, Hewett J, Ramesh V, Sapp E, DiFiglia M, Breakefield XO, Standaert DG: Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain. Brain Res 2003, 986(1-2):12–21. 10.1016/S0006-8993(03)03164-0
Article
CAS
PubMed
Google Scholar
McNaught KSP, Kapustin A, Jackson T, Jengelley T-A, JnoBaptiste R, Shashidharan P, Perl DP, Pasik P, Olanow CW: Brainstem pathology in DYT1 primary torsion dystonia. Ann Neurol 2004, 56: 540–547. 10.1002/ana.20225
Article
CAS
PubMed
Google Scholar
Granata A, Schiavo G, Warner TT: TorsinA and dystonia: from nuclear envelope to synapse. J Neurochem 2009, 109(6):1596–1609. 10.1111/j.1471-4159.2009.06095.x
Article
CAS
PubMed
Google Scholar
Shashidharan P, Sandu D, Potla U, Armata IA, Walker RH, McNaught KS, Weisz D, Sreenath T, Brin MF, Olanow CW: Transgenic mouse model of early-onset DYT1 dystonia. Hum Mol Genet 2005, 14(1):125–133. 10.1093/hmg/ddi012
Article
CAS
PubMed
Google Scholar
Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, Brownlee LM, Vogel FS, Hughes JP, van Belle G, Berg L: The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 1991, 41(4):479–486. 10.1212/WNL.41.4.479
Article
CAS
PubMed
Google Scholar
Braak H, Braak E: Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol 1991, 82(4):239–259. 10.1007/BF00308809
Article
CAS
PubMed
Google Scholar
Williams DR, Holton JL, Strand C, Pittman A, de Silva R, Lees AJ, Revesz T: Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome. Brain 2007, 130(Pt 6):1566–1576. 10.1093/brain/awm104
Article
PubMed
Google Scholar
McKeith IG, Dickson DW, Lowe J, Emre M, O'Brien JT, Feldman H, Cummings J, Duda JE, Lippa C, Perry EK, Aarsland D, Arai H, Ballard CG, Boeve B, Burn DJ, Costa D, Del Ser T, Dubois B, Galasko D, Gauthier S, Goetz CG, Gomez-Tortosa E, Halliday G, Hansen LA, Hardy J, Iwatsubo T, Kalaria RN, Kaufer D, Kenny RA, Korczyn A, et al.: Diagnosis and management of dementia with Lewy bodies: third report of the DLB consortium. Neurology 2005, 65(12):1863–1872. 10.1212/01.wnl.0000187889.17253.b1
Article
CAS
PubMed
Google Scholar
Hartmann P, Ramseier A, Gudat F, Mihatsch MJ, Polasek W: Normal weight of the brain in adults in relation to age, sex, body height and weight. Pathologe 1994, 15(3):165–170. 10.1007/s002920050040
Article
CAS
PubMed
Google Scholar
Den Dunnen WFA: Neuropathological diagnostic considerations in hyperkinetic movement disorders. Front Neurol 2013, 4: 7.
Article
PubMed
PubMed Central
Google Scholar
Eidelberg D: Abnormal brain networks in DYT1 dystonia. Adv Neurol 1998, 78: 127–133.
CAS
PubMed
Google Scholar
Edwards MJ, Huang Y-Z, Wood NW, Rothwell JC, Bhatia KP: Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation. Brain 2003, 126(Pt 9):2074–2080. 10.1093/brain/awg209
Article
PubMed
Google Scholar
Richter-Landsberg C, Leyk J: Inclusion body formation, macroautophagy, and the role of HDAC6 in neurodegeneration. Acta Neuropathol 2013, 126(6):793–807. 10.1007/s00401-013-1158-x
Article
CAS
PubMed
Google Scholar
Ahmed Z, Tabrizi SJ, Li A, Houlden H, Sailer A, Lees AJ, Revesz T, Holton JL: A Huntington's disease phenocopy characterized by pallido-nigro-luysian degeneration with brain iron accumulation and p62-positive glial inclusions. Neuropathol Appl Neurobiol 2010, 36(6):551–557. 10.1111/j.1365-2990.2010.01093.x
Article
CAS
PubMed
Google Scholar
Shashidharan P, Good PF, Hsu A, Perl DP, Brin MF, Olanow CW: TorsinA accumulation in Lewy bodies in sporadic Parkinson's disease. Brain Res 2000, 877(2):379–381. 10.1016/S0006-8993(00)02702-5
Article
CAS
PubMed
Google Scholar
Gordon KL, Gonzalez-Alegre P: Consequences of the DYT1 mutation on torsinA oligomerization and degradation. Neuroscience 2008, 157(3):588–595. 10.1016/j.neuroscience.2008.09.028
Article
CAS
PubMed
PubMed Central
Google Scholar
Takahashi K, Okita K, Nakagawa M, Yamanaka S: Induction of pluripotent stem cells from fibroblast cultures. Nat Protoc 2007, 2(12):3081–3089. 10.1038/nprot.2007.418
Article
CAS
PubMed
Google Scholar
Yu J, Vodyanik MA, Smuga-Otto K, Antosiewicz-Bourget J, Frane JL, Tian S, Nie J, Jonsdottir GA, Ruotti V, Stewart R, Slukvin II, Thomson JA: Induced pluripotent stem cell lines derived from human somatic cells. Science 2007, 318(5858):1917–1920. 10.1126/science.1151526
Article
CAS
PubMed
Google Scholar