Genetics and pharmacological treatment of dystonia

International Review of Neurobiology

Volumn 98, Issue , 2011, Pages 525-549

  Barrett, Matthew J ^a   Bressman, Susan ^b  

^a BETH ISRAEL MEDICAL CENTER   (United States)

^b Phillips Ambulatory Care Center   (United States)

Author keywords

Degeneration; Dyskinesia; Dystonia; Multifocal; Torsion; Tremor

Indexed keywords

ANTICONVULSIVE AGENT; BACLOFEN; CARBIDOPA; CLONAZEPAM; CLOZAPINE; CYCLOBENZAPRINE; LEVODOPA; OXYBATE SODIUM; PYRIDOSTIGMINE; TETRABENAZINE; TIZANIDINE; TRIHEXYPHENIDYL;

AGRANULOCYTOSIS; ANTICHOLINERGIC SYNDROME; BLEPHAROSPASM; BOOK; CLINICAL FEATURE; CONFUSION; DEPRESSION; DISEASE ASSOCIATION; DOSE RESPONSE; DRUG EFFICACY; DRUG SAFETY; DRUG TOLERABILITY; DYSTONIA; DYSTONIA PARKINSONISM; DYT1 GENE; DYT11 GENE; DYT12 GENE; DYT13 GENE; DYT14 GENE; DYT15 GENE; DYT16 GENE; DYT17 GENE; DYT2 GENE; DYT3 GENE; DYT4 GENE; DYT5 GENE; DYT6 GENE; DYT7 GENE; GENE DELETION; GENE FREQUENCY; GENERALIZED DYSTONIA; HALLUCINATION; HUMAN; HUNTINGTON CHOREA; LOW DRUG DOSE; MEMORY DISORDER; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; MUTATOR GENE; MYOCLONUS DYSTONIA; PARKINSONISM; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; RAPID ONSET DYSTONIA PARKINSONISM; SEDATION; SIDE EFFECT; TORSION DYSTONIA; X LINKED DYSTONIA PARKINSONISM;

EID: 80052538243     PISSN: 00747742     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-12-381328-2.00019-5     Document Type: Chapter

References (159)

1. Ahmad F., Davis M.B., et al. Evidence for locus heterogeneity in autosomal dominant torsion dystonia. Genomics 1993, 15(1):9-12.
2. Almasy L., Bressman S.B., et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann. Neurol. 1997, 42(4):670-673.
3. Argyelan M., Carbon M., et al. Cerebellothalamocortical connectivity regulates penetrance in dystonia. J. Neurosci. 2009, 29(31):9740-9747.
4. Asanuma K., Ma Y., et al. Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation. Neurology 2005, 64(2):347-349.
5. Asmus F., Hjermind L.E., et al. Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. Brain 2007, 130(Pt 10):2736-2745.
6. Bentivoglio A.R., Ialongo T., et al. Phenotypic characterization of DYT13 primary torsion dystonia. Mov. Disord. 2004, 19(2):200-206.
7. Bernard G., Vanasse M., et al. A case of secondary dystonia responding to levodopa. J. Child Neurol. 2010, 25(6):780-781.
8. Bhidayasiri R., Jen J.C., et al. Three brothers with a very-late-onset writer's cramp. Mov. Disord. 2005, 20(10):1375-1377.
9. Bonetti M., Barzaghi C., et al. Mutation screening of the DYT6/THAP1 gene in Italy. Mov. Disord. 2009, 24(16):2424-2427.
10. Brashear A., Dobyns W.B., et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007, 130(Pt 3):828-835.
11. Bressman S.B., Raymond D., et al. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet. Neurol. 2009, 8(5):441-446.
12. Bressman S.B., Sabatti C., et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000, 54(9):1746-1752.
13. Brüggemann N., Kock N., et al. The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?. Neurology 2009, 72(16):1441-1443.
14. Burke R.E., Fahn S., et al. Torsion dystonia: a double-blind, prospective trial of high-dosage trihexyphenidyl. Neurology 1986, 36(2):160-164.
15. Calakos N., Patel V.D., et al. Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. J. Med. Genet. 2010, 47(9):646-650.
16. Camargos S., Scholz S., et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet. Neurol.. 2008, 7(3):207-215.
17. Carbon M., Eidelberg D. Abnormal structure-function relationships in hereditary dystonia. Neuroscience 2009, 164(1):220-229.
18. Carbon M., Kingsley P.B., et al. Microstructural white matter changes in carriers of the DYT1 gene mutation. Ann. Neurol. 2004, 56(2):283-286.
19. Carbon M., Niethammer M., et al. Abnormal striatal and thalamic dopamine neurotransmission: genotype-related features of dystonia. Neurology 2009, 72(24):2097-2103.
20. Cayrol C., Lacroix C., et al. The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes. Blood 2007, 109(2):584-594.
21. Cheeran B., Talelli P., et al. A common polymorphism in the brain-derived neurotrophic factor gene (BDNF) modulates human cortical plasticity and the response to rTMS. J. Physiol. 2008, 586(Pt 23):5717-5725.
22. Chouery E., Kfoury J., et al. A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12. Neurogenetics 2008, 9(4):287-293.
23. Clarimon J., Asgeirsson H., et al. Torsin A haplotype predisposes to idiopathic dystonia. Ann. Neurol. 2005, 57(5):765-767.
24. Clarimon J., Brancati F., et al. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Mov. Disord. 2007, 22(2):162-166.
25. Clot F., Grabli D., et al. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain 2009, 132(Pt 7):1753-1763.
26. Cramer S.C., Sampat A., et al. Increased prevalence of val(66)met BDNF genotype among subjects with cervical dystonia. Neurosci. Lett. 2010, 468(1):42-45.
27. Dang M.T., Yokoi F., et al. Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. Exp. Neurol. 2005, 196(2):452-463.
28. Dang M.T., Yokoi F., et al. Motor deficits and hyperactivity in Dyt1 knockdown mice. Neurosci. Res. 2006, 56(4):470-474.
29. de Carvalho Aguiar P., Sweadner K.J., et al. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 2004, 43(2):169-175.
30. Defazio G., Livrea P., et al. Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia. Eur. Neurol. 1993, 33(5):345-350.
31. Defazio G., Matarin M., et al. The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Mov. Disord. 2009, 24(4):613-616.
32. Djarmati A., Schneider S.A., et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet. Neurol. 2009, 8(5):447-452.
33. Edwards M.J., Huang Y.Z., et al. Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation. Brain 2003, 126(Pt 9):2074-2080.
34. Eidelberg D., Moeller J.R., et al. Functional brain networks in DYT1 dystonia. Ann. Neurol. 1998, 44(3):303-312.
35. Evidente V.G. Zolpidem improves dystonia in " Lubag" or X-linked dystonia-parkinsonism syndrome. Neurology 2002, 58(4):662-663.
36. Evidente V.G., Advincula J., et al. Phenomenology of " Lubag" or X-linked dystonia-parkinsonism. Mov. Disord. 2002, 17(6):1271-1277.
37. Evidente V.G., Gwinn-Hardy K., et al. X-linked dystonia (" Lubag" ) presenting predominantly with parkinsonism: a more benign phenotype?. Mov. Disord. 2002, 17(1):200-202.
38. Evidente V.G., Nolte D., et al. Phenotypic and molecular analyses of X-linked dystonia-parkinsonism (" lubag" ) in women. Arch. Neurol. 2004, 61(12):1956-1959.
39. Fabbrini G., Brancati F., et al. A novel family with an unusual early-onset generalized dystonia. Mov. Disord. 2005, 20(1):81-86.
40. Fasano A., Nardocci N., et al. Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature. Mov. Disord. 2006, 21(9):1411-1418.
41. Fiorio M., Gambarin M., et al. Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?. Brain 2007, 130(Pt 1):134-142.
42. Foncke E.M., Cath D., et al. Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia? a study of a large Dutch M-D family. Cogn. Behav. Neurol. 2009, 22(2):127-133.
43. Frederic M., Lucarz E., et al. First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population. Mov. Disord. 2007, 22(6):884-888.
44. Frucht S.J., Houghton W.C., et al. A single-blind, open-label trial of sodium oxybate for myoclonus and essential tremor. Neurology 2005, 65(12):1967-1969.
45. Fuchs T., Gavarini S., et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat. Genet. 2009, 41(3):286-288.
46. Furukawa Y., Graf W.D., et al. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 2001, 56(2):260-263.
47. Furukawa Y., Kish S.J., et al. Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase I gene. Neurology 2000, 54(11):2187.
48. Furukawa Y., Lang A.E., et al. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology 1998, 50(4):1015-1020.
49. Gavarini S., Cayrol C., et al. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann. Neurol. 2010, 68(4):549-553.
50. Ghilardi M.F., Carbon M., et al. Impaired sequence learning in carriers of the DYT1 dystonia mutation. Ann. Neurol. 2003, 54(1):102-109.
51. Giles L.M., Chen J., et al. Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope. Hum. Mol. Genet. 2008, 17(17):2712-2722.
52. Gimenez-Roldan S., Delgado G., et al. Hereditary torsion dystonia in gypsies. Adv. Neurol. 1988, 50:73-81.
53. Goodchild R.E., Dauer W.T. Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc. Natl. Acad. Sci. USA 2004, 101(3):847-852.
54. Goodchild R.E., Kim C.E., et al. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 2005, 48(6):923-932.
55. Grabowski M., Zimprich A., et al. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur. J. Hum. Genet. 2003, 11(2):138-144.
56. Granata A., Watson R., et al. The dystonia-associated protein torsinA modulates synaptic vesicle recycling. J. Biol. Chem. 2008, 283(12):7568-7579.
57. Greene P., Kang U.J., et al. Spread of symptoms in idiopathic torsion dystonia. Mov. Disord. 1995, 10(2):143-152.
58. Greene P., Shale H., et al. Analysis of open-label trials in torsion dystonia using high dosages of anticholinergics and other drugs. Mov. Disord. 1988, 3(1):46-60.
59. Grimes D.A., Han F., et al. A novel locus for inherited myoclonus-dystonia on 18p11. Neurology 2002, 59(8):1183-1186.
60. Groen J.L., Ritz K., et al. DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov. Disord. 2010, 25(14):2420-2427.
61. Grunewald A., Djarmati A., et al. Myoclonus-dystonia: significance of large SGCE deletions. Hum. Mutat. 2008, 29(2):331-332.
62. Guettard E., Portnoi M.F., et al. Myoclonus-dystonia due to maternal uniparental disomy. Arch. Neurol. 2008, 65(10):1380-1385.
63. Hagenah J., Saunders-Pullman R., et al. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology 2005, 64(5):908-911.
64. Hague S., Klaffke S., et al. Lack of association with TorsinA haplotype in German patients with sporadic dystonia. Neurology 2006, 66(6):951-952.
65. Han F., Racacho L., et al. Refinement of the DYT15 locus in myoclonus dystonia. Mov. Disord. 2007, 22(6):888-892.
66. Hanihara T., Inoue K., et al. 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. Mov. Disord. 1997, 12(3):408-411.
67. Head R.A., de Goede C.G., et al. Pyruvate dehydrogenase deficiency presenting as dystonia in childhood. Dev. Med. Child Neurol. 2004, 46(10):710-712.
68. Hedreen J.C., Zweig R.M., et al. Primary dystonias: a review of the pathology and suggestions for new directions of study. Adv. Neurol. 1988, 50:123-132.
69. Heiman G.A., Ottman R., et al. Increased risk for recurrent major depression in DYT1 dystonia mutation carriers. Neurology 2004, 63(4):631-637.
70. Heiman G.A., Ottman R., et al. Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007, 144B(3):361-364.
71. Hess C.W., Raymond D., et al. Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology 2007, 68(7):522-524.
72. Hewett J., Johanson P., et al. Function of dopamine transporter is compromised in DYT1 transgenic animal model in vivo. J. Neurochem. 2010, 113(1):228-235.
73. Hewett J.W., Tannous B., et al. Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells. Proc. Natl. Acad. Sci. USA 2007, 104(17):7271-7276.
74. Hewett J.W., Zeng J., et al. Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. Neurobiol. Dis. 2006, 22(1):98-111.
75. Houlden H., Schneider S.A., et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 2010, 74(10):846-850.
76. Ichinose H., Ohye T., et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat. Genet. 1994, 8(3):236-242.
77. Ichinose H., Suzuki T., et al. Molecular genetics of dopa-responsive dystonia. Biol. Chem. 1999, 380(12):1355-1364.
78. Jamora R.D., Tan E.K., et al. DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West. J. Neurol. Sci. 2006, 247(1):35-37.
79. Jarman P.R., Bandmann O., et al. GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. J. Neurol. Neurosurg. Psychiatry 1997, 63(3):304-308.
80. Jarman P.R., del Grosso N., et al. Primary torsion dystonia: the search for genes is not over. J. Neurol. Neurosurg. Psychiatry 1999, 67(3):395-397.
81. Kabakci K., Hedrich K., et al. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology 2004, 62(3):395-400.
82. Kaiser F.J., Osmanoric A., et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann. Neurol. 2010, 68(4):554-559.
83. Kamm C., Asmus F., et al. Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Neurology 2006, 67(10):1857-1859.
84. Kamm C., Boston H., et al. The early onset dystonia protein torsinA interacts with kinesin light chain 1. J. Biol. Chem. 2004, 279(19):19882-19892.
85. Kamm C., Fischer H., et al. Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology 2008, 70(23):2261-2262.
86. Karp B.I., Goldstein S.R., et al. An open trial of clozapine for dystonia. Mov. Disord. 1999, 14(4):652-657.
87. Kenney C., Hunter C., et al. Long-term tolerability of tetrabenazine in the treatment of hyperkinetic movement disorders. Mov. Disord. 2007, 22(2):193-197.
88. Kenney C., Jankovic J. Tetrabenazine in the treatment of hyperkinetic movement disorders. Expert Rev. Neurother. 2006, 6(1):7-17.
89. Khan N.L., Graham E., et al. Parkin disease: a phenotypic study of a large case series. Brain 2003, 126(Pt 6):1279-1292.
90. Khan N.L., Wood N.W., et al. Autosomal recessive, DYT2-like primary torsion dystonia: a new family. Neurology 2003, 61(12):1801-1803.
91. Kock N., Naismith T.V., et al. Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum. Mol. Genet. 2006, 15(8):1355-1364.
92. Kong C.K., Ko C.H., et al. Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness. Neurology 2001, 57(6):1121-1124.
93. Koukouni V., Martino D., et al. The entity of young onset primary cervical dystonia. Mov. Disord. 2007, 22(6):843-847.
94. Kyllerman M., Forsgren L., et al. Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. Mov. Disord. 1990, 5(4):270-279.
95. Lee L.V., Pascasio F.M., et al. Torsion dystonia in Panay, Philippines. Adv. Neurol. 1976, 14:137-151.
96. Leube B., Kessler K.R., et al. Phenotypic variability of the DYT1 mutation in German dystonia patients. Acta Neurol. Scand. 1999, 99(4):248-251.
97. Leube B., Rudnicki D., et al. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum. Mol. Genet. 1996, 5(10):1673-1677.
98. Leung J.C., Klein C., et al. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001, 3(3):133-143.
99. Luciano M.S., Ozelius L., et al. Responsiveness to levodopa in epsilon-sarcoglycan deletions. Mov. Disord. 2009, 24(3):425-428.
100. Mahloudji M., Pikielny R.T. Hereditary essential myoclonus. Brain 1967, 90(3):669-674.
101. Makino S., Kaji R., et al. Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. Am. J. Hum. Genet. 2007, 80(3):393-406.
102. Manji H., Howard R.S., et al. Status dystonicus: the syndrome and its management. Brain 1998, 121(Pt 2):243-252.
103. Marelli C., Canafoglia L., et al. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. Mov. Disord. 2008, 23(14):2041-2048.
104. Mariotti P., Fasano A., et al. Management of status dystonicus: our experience and review of the literature. Mov. Disord. 2007, 22(7):963-968.
105. Martino D., Muglia M., et al. Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia. Eur. J. Neurol. 2009, 16(8):949-952.
106. McKeon A., Ozelius L.J., et al. Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred. Mov. Disord. 2007, 22(9):1325-1327.
107. McNaught K.S., Kapustin A., et al. Brainstem pathology in DYT1 primary torsion dystonia. Ann. Neurol. 2004, 56(4):540-547.
108. Misbahuddin A., Placzek M.R., et al. A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. Neurology 2002, 58(1):124-126.
109. Misbahuddin A., Placzek M.R., et al. Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells. Mov. Disord. 2005, 20(4):432-440.
110. Moretti P., Hedera P., et al. Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family. Mov. Disord. 2005, 20(2):245-247.
111. Muller B., Hedrich K., et al. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am. J. Hum. Genet. 2002, 71(6):1303-1311.
112. Naismith T.V., Dalal S., et al. Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion. J. Biol. Chem. 2009, 284(41):27866-27874.
113. Napolitano F., Pasqualetti M., et al. Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia. Neurobiol. Dis. 2010, 38(3):434-445.
114. Nery F.C., Zeng J., et al. TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. J. Cell. Sci. 2008, 121(Pt 20):3476-3486.
115. Neubauer D., Frelih J., et al. 'Pyruvate dehydrogenase deficiency presenting as dystonia and responding to levodopa'. Dev. Med. Child Neurol. 2005, 47(7):504.
116. Nygaard T.G., Raymond D., et al. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann. Neurol. 1999, 46(5):794-798.
117. Nygaard T.G., Takahashi H., et al. Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann. Neurol. 1992, 32(5):603-608.
118. Nygaard T.G., Waran S.P., et al. Dopa-responsive dystonia simulating cerebral palsy. Pediatr. Neurol. 1994, 11(3):236-240.
119. O'Farrell C.A., Martin K.L., et al. Mutant torsinA interacts with tyrosine hydroxylase in cultured cells. Neuroscience 2009, 164(3):1127-1137.
120. Obeso J.A., Rothwell J.C., et al. Myoclonic dystonia. Neurology 1983, 33(7):825-830.
121. Ozelius L.J., Hewett J.W., et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat. Genet. 1997, 17(1):40-48.
122. Papapetropoulos S., Singer C. Improvement of cervico-trunco-brachial segmental dystonia with topiramate. J Neurol 2006, 253(4):535-536.
123. Parker N. Hereditary whispering dysphonia. J. Neurol. Neurosurg. Psychiatry 1985, 48(3):218-224.
124. Pisani A., Martella G., et al. Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia. Neurobiol. Dis. 2006, 24(2):318-325.
125. Placzek M.R., Misbahuddin A., et al. Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene. J. Neurol. Neurosurg. Psychiatry 2001, 71(2):262-264.
126. Quartarone A., Morgante F., et al. Abnormal plasticity of sensorimotor circuits extends beyond the affected body part in focal dystonia. J. Neurol. Neurosurg. Psychiatry 2008, 79(9):985-990.
127. Risch N., de Leon D., et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat. Genet. 1995, 9(2):152-159.
128. Risch N.J., Bressman S.B., et al. Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am. J. Hum. Genet. 2007, 80(6):1188-1193.
129. Ritz K., Gerrits M.C., et al. Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. J. Neurol. Neurosurg. Psychiatry 2009, 80(6):653-658.
130. Ritz K., van Schaik B.D., et al. SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?. Eur. J. Hum. Genet. 2010.
131. Rostasy K., Augood S.J., et al. TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol. Dis. 2003, 12(1):11-24.
132. Saunders-Pullman R., Shriberg J., et al. Penetrance and expression of dystonia genes. Adv. Neurol. 2004, 94:121-125.
133. Schneider S.A., Bhatia K.P., et al. Complicated recessive dystonia parkinsonism syndromes. Mov. Disord. 2009, 24(4):490-499.
134. Seibler P., Djarmati A., et al. A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. Lancet. Neurol. 2008, 7(5):380-381.
135. Sharma N., Baxter M.G., et al. Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. J. Neurosci. 2005, 25(22):5351-5355.
136. Sharma N., Franco R.A., et al. Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia. Mov. Disord. 2010, 25(13):2183-2187.
137. Shashidharan P., Sandu D., et al. Transgenic mouse model of early-onset DYT1 dystonia. Hum. Mol. Genet. 2005, 14(1):125-133.
138. Sibbing D., Asmus F., et al. Candidate gene studies in focal dystonia. Neurology 2003, 61(8):1097-1101.
139. Steinberger D., Blau N., et al. Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. Neurogenetics 2004, 5(3):187-190.
140. Steinberger D., Topka H., et al. GCH1 mutation in a patient with adult-onset oromandibular dystonia. Neurology 1999, 52(4):877-879.
141. Sullivan K.L., Hauser R.A., et al. Levetiracetam for the treatment of generalized dystonia. Parkinsonism Relat. Disord. 2005, 11(7):469-471.
142. Tassin J., Durr A., et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?. Brain 2000, 123(Pt 6):1112-1121.
143. Torres G.E., Sweeney A.L., et al. Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. Proc. Natl. Acad. Sci. USA 2004, 101(44):15650-15655.
144. Trender-Gerhard I., Sweeney M.G., et al. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J. Neurol. Neurosurg. Psychiatry 2009, 80(8):839-845.
145. Tuffery-Giraud S., Cavalier L., et al. No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia. J. Med. Genet. 2001, 38(10):E35.
146. Vale R.D. AAA proteins. Lords of the ring. J. Cell. Biol. 2000, 150(1):F13-19.
147. Valente E.M., Bentivoglio A.R., et al. Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. Neurol Sci 2001, 22(1):95-96.
148. van den Heuvel L.P., Luiten B., et al. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. Hum. Genet. 1998, 102(6):644-646.
149. Van Hove J.L., Steyaert J., et al. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J. Neurol. Neurosurg. Psychiatry 2006, 77(1):18-23.
150. Waddy H.M., Fletcher N.A., et al. A genetic study of idiopathic focal dystonias. Ann. Neurol. 1991, 29(3):320-324.
151. Waters C.H., Faust P.L., et al. Neuropathology of lubag (x-linked dystonia parkinsonism). Mov. Disord. 1993, 8(3):387-390.
152. Waters C.H., Takahashi H., et al. Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women. Neurology 1993, 43(8):1555-1558.
153. Woon K., Tsegaye M., et al. The role of intrathecal baclofen in the management of primary and secondary dystonia in children. Br. J. Neurosurg. 2007, 21(4):355-358.
154. Xiao J., Zhao Y., et al. Novel THAP1 sequence variants in primary dystonia. Neurology 2010, 74(3):229-238.
155. Yokoi F., Dang M.T., et al. Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice. J. Biochem. 2006, 140(1):141-146.
156. Zeman W., Dyken P. Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies. Psychiatr. Neurol. Neurochir. 1967, 70(2):77-121.
157. Zesiewicz T.A., Louis E.D., et al. Substantial improvement in a Meige's syndrome patient with levetiracetam treatment. Mov. Disord. 2004, 19(12):1518-1521.
158. Zimprich A., Grabowski M., et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat. Genet. 2001, 29(1):66-69.
159. Zirn B., Grundmann K., et al. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). J. Neurol. Neurosurg. Psychiatry 2008, 79(12):1327-1330.