Dystonia and its disorders

Neurologic Clinics

Volumn 19, Issue 3, 2001, Pages 681-705

  Friedman, Jennifer ^a   Standaert, David G ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; BACLOFEN; BENZATROPINE; BENZODIAZEPINE DERIVATIVE; BUSPIRONE; CARBIDOPA; CLONAZEPAM; COCAINE; DOPAMINE RECEPTOR BLOCKING AGENT; DOPAMINE RECEPTOR STIMULATING AGENT; ERGOT ALKALOID; FLECAINIDE; LEVODOPA; LITHIUM; MONOAMINE OXIDASE INHIBITOR; SEROTONIN UPTAKE INHIBITOR; TRIHEXYPHENIDYL;

CHROMOSOME BANDING PATTERN; CLINICAL FEATURE; CLINICAL TRIAL; COMPARATIVE STUDY; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DRUG CHOICE; DYSTONIA; GENE LOCATION; GENE MAPPING; GENETIC PREDISPOSITION; HUMAN; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL; REVIEW; TARDIVE DYSKINESIA; TREATMENT OUTCOME; WILSON DISEASE;

EID: 0034845072     PISSN: 07338619     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0733-8619(05)70040-2     Document Type: Article

References (142)

1. Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings
2. The functional anatomy of basal ganglia disorders
3. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197
4. Distribution of the mRNAs encoding torsin A and torsin B in the normal adult human brain
5. The GTP-cyclohydrolase I gene in atypical parkinsonian patients: A clinico-genetic study
6. Dopa-responsive dystonia in British patients: New mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity
7. Atypical presentations of dopa-responsive dystonia
8. Dopa-responsive dystonia: A clinical and molecular genetic study
9. Mutations in the tyrosine hydroxylase gene cause various forms of l-dopa-responsive dystonia
10. Variable phenotype of rapid-onset dystonia-parkinsonism
11. Rapid-onset dystonia-parkinsonism in a second family
12. Rapid-onset dystonia-parkinsonism: A report of clinical, biochemical, and genetic studies in two families
13. Biochemical hallmarks of tyrosine hydroxylase deficiency
14. Idiopathic dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance
15. Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation
16. Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia
17. Clinical-genetic spectrum of primary dystonia
18. The DYT1 phenotype and guidelines for diagnostic testing
19. Penicillamine should not be used as initial therapy in Wilson's disease
20. Laryngeal dystonia (spasmodic dysphonia): Observations of 901 patients and treatment with botulinum toxin
21. The Wilson's disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
22. Secondary dystonia
23. Cervical dystonia due to spinal cord ependymoma: Involvement of cervical cord segments in the pathogenesis of dystonia
24. Ulnar neuropathy and dystonic flexion of the fourth and fifth digits: Clinical correlation in musicians
25. Positron emission tomographic studies of regional cerebral glucose metabolism in idiopathic dystonia
26. 20-Year follow-up study of the neurosurgical treatment of dystonia musculorum deformans
27. Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus
28. Wilson's Disease
29. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
30. Paroxysmal dyskinesias: Clinical features and classification
31. Wilson's disease. Psychiatric symptoms in 195 cases
32. Sustained effect of high-dose intrathecal baclofen in primary generalized dystonia: A 2-year follow-up study
33. Rapid-onset dystonia-parkinsonism
34. The metabolic topography of idiopathic torsion dystonia
35. Functional brain networks in DYT1 dystonia
36. High dosage anticholinergic therapy in dystonia
37. Concept and classification of dystonia
38. Paroxysmal Dyskinsias
39. Classification of dystonia
40. Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q
41. Intrathecal baclofen in the treatment of dystonia
42. Outcome of selective ramisectomy for botulinum toxin resistant torticollis
43. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q
44. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
45. Dopa-responsive dystonia: Recent advances and remaining issues to be addressed
46. Inherited myoclonus-dystonia syndrome
47. Diagnosis of Wilson's disease: An experience over three decades
48. Delineation of the dystonia-parkinsonism syndrome locus in Xq13
49. Experience with high dosages of anticholinergic and other drugs in the treatment of torsion dystonia
50. Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1
51. The neurophysiology of dystonia
52. 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study
53. Leigh syndrome presenting with dystonia: Report of one case
54. Aromatic amino acid decarboxylase deficiency in twins
55. Aromatic L-amino acid decarboxylase deficiency: Clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis
56. Defects of biopterin metabolism and biogenic amine biosynthesis: Clinical diagnostic, and therapeutic aspects
57. Experience with stereotactics for dystonia: Case examples
58. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
59. Abnormal cortical motor excitability in dystonia
60. Dystonic Disorders
61. Botulinum toxin in movement disorders
62. Medical Therapy and Botulinum Toxin in Dystonia
63. Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family
64. Dopa-responsive dystonia: A syndrome of selective nigrostriatal dopamine deficiency
65. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
66. Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied
67. Search for a founder mutation in idiopathic focal dystonia from Northern Germany
68. Genetics of primary dystonia
69. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia
70. Genetic testing for early-onset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects
71. A major locus for myoclonus-dystonia maps to chromosome 7q in eight families
72. Human deafness dystonia syndrome is a mithochondrial disease
73. Aromatic L-amino acid decarboxylase deficiency: An extrapyramidal movement disorder with oculogyric crises
74. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews
75. Rapid-onset dystonia-parkinsonism: Linkage to chromosome 19q13
76. Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis
77. Dopamine agonists and antagonists in the treatment of idiopathic dystonia
78. Torsion dystonia in Panay, Philippines
79. Brian dopaminergic system studied in patients with dystonia using positron emission tomography
80. Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
81. Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe
82. Sporadic focal dystonia in northwest Germany: Molecular basis on chromosome 18p
83. Penicillamine as a controversial treatment for Wilson's disease
84. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
85. Recessively inherited l-dopa-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
86. Aromatic L-amino acid decarboxylase deficiency: Clinical features, diagnosis, and treatment of a second family
87. Kearns-Sayre syndrome "plus." Classical clinical findings and dystonia
88. Investigation of dystonia
89. The anatomical basis of symptomatic hemidystonia
90. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease
91. Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations
92. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration
93. Clinical and molecular genetics of primary dystonias
94. A Yorkshire family with adult-onset craniocervical primary torsion dystonia
95. Dystonias responding to levodopa and failure in biopterin metabolism
96. Epidemiology of focal and generalized dystonia in Rochester, Minnesota
97. Dopa-responsive dystonia: Long-term treatment response and prognosis
98. Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis
99. Basal ganglia pathophysiology. A critical review
100. Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews
101. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
102. The current model of basal ganglia organization under scrutiny
103. Wilson's disease
104. 18F] Spiperone binding in putamen in idiopathic local dystonia
105. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2
106. Paroxysmal dystonia due to a lesion of the cervical cord: Case report
107. Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: An area of confusion
108. Essential myoclonus and myoclonic dystonia
109. Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34
110. Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance
111. Wilson's disease
112. GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness
113. Does ulnar neuropathy predispose to focal dystonia?
114. Phenylalanine loading in the diagnosis of Dopa-responsive dystonia: The neccessity for measuring biopterin
115. Hereditary progressive dystonia with marked diurnal fluctuation
116. Hereditary progressive dystonia with marked diurnal fluctuation
117. Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation
118. A frame shift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: Is the mutation pathogenic?
119. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia
120. Wilson's disease in patients presenting with liver disease: A diagnostic challenge
121. Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation
122. Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency
123. Hand dystonia secondary to cervical demyelinating lesion
124. The role of DYT1 in primary torsion dystonia in Europe
125. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive l-dopa-responsive dystonia in the Dutch population
126. GPi pallidotomy for dystonia: Clinical outcome and neuronal activity
127. Neuronal activity in the basal ganglia in patients with generalized dystonia and hemiballismus
128. Physiology of hypokinetic and hyperkinetic movement disorders: Model for dyskinesia
129. A genetic study of idiopathic focal dystonias
130. Intrathecal baclofen for dystonia: Benefits and complications during six years of experience
131. Mitochondria and dystonia: The movement disorder connection?
132. Wilson's disease presenting with features of hepatic dysfunction: A clinical analysis of eighty-seven patients
133. Penicillamine: The treatment of first choice for patients with Wilson's disease
134. Linkage analysis in British and French families with idiopathic torsion dystonia
135. Neuropathology of lubag (x-linked dystonia parkinsonism)
136. Genetic mapping of "Lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome
137. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
138. Localization of a gene for myoclonus dystonia to chromosome 7q21-q31
139. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutation?
140. Electrical stimulation of the subthalamine Nucleus in Advanced Parkinson's Disease
141. Can peripheral trauma induce dystonia and other movement disorders? Yes!
142. Posteroventeral medial pallidotomy in Parkinson's disease