Genetic and clinical features of primary torsion dystonia

[1]  V. Kostic,et al.  A common polymorphism in the brain-derived neurotrophic factor gene in patients with adult-onset primary focal and segmental dystonia , 2013, Acta Neurologica Belgica.

[2]  L. Cui,et al.  Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China , 2011, European journal of neurology.

[3]  L. Defebvre,et al.  Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype , 2011, neurogenetics.

[4]  L. Ozelius,et al.  Screening of Brazilian Families with Primary Dystonia Reveals a Novel THAP 1 Mutation and a De Novo TOR 1 A GAG Deletion , 2010 .

[5]  C. Gerloff,et al.  Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families , 2010, Movement disorders : official journal of the Movement Disorder Society.

[6]  F. Baas,et al.  DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation , 2010, Movement disorders : official journal of the Movement Disorder Society.

[7]  John K. Kuster,et al.  Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia , 2010, Movement disorders : official journal of the Movement Disorder Society.

[8]  M. Ehrlich,et al.  Direct interaction between causative genes of DYT1 and DYT6 primary dystonia , 2010, Annals of neurology.

[9]  K. Lohmann,et al.  The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6) , 2010, Annals of neurology.

[10]  G. Deuschl,et al.  Prevalence of THAP1 sequence variants in German patients with primary dystonia , 2010, Movement disorders : official journal of the Movement Disorder Society.

[11]  N. Brüggemann,et al.  Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study. , 2010, Parkinsonism & related disorders.

[12]  A. Albanese,et al.  Differential diagnosis of dystonia , 2010, European journal of neurology.

[13]  S A Schneider,et al.  THAP1 mutations (DYT6) are an additional cause of early-onset dystonia , 2010, Neurology.

[14]  B. Monsarrat,et al.  The THAP-Zinc Finger Protein THAP1 Associates with Coactivator HCF-1 and O-GlcNAc Transferase , 2010, The Journal of Biological Chemistry.

[15]  S. Campagne,et al.  Structural determinants of specific DNA-recognition by the THAP zinc finger , 2010, Nucleic acids research.

[16]  A. Blitzer,et al.  Novel THAP1 sequence variants in primary dystonia , 2010, Neurology.

[17]  S. Cramer,et al.  Increased prevalence of val66met BDNF genotype among subjects with cervical dystonia , 2010, Neuroscience Letters.

[18]  A. Vortmeyer,et al.  Brainstem pathology in spasmodic dysphonia , 2010, The Laryngoscope.

[19]  A. Bentivoglio,et al.  Mutation screening of the DYT6/THAP1 gene in Italy , 2009, Movement disorders : official journal of the Movement Disorder Society.

[20]  C. Paisán-Ruiz,et al.  Clinical follow up of pathological gambling in Parkinson's disease in the West Scotland study , 2009, Movement disorders : official journal of the Movement Disorder Society.

[21]  P. Lockhart,et al.  Mutant torsinA interacts with tyrosine hydroxylase in cultured cells , 2009, Neuroscience.

[22]  J. Berger,et al.  THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves , 2009, Nature Structural &Molecular Biology.

[23]  Gaofeng Wang,et al.  Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia , 2009, Journal of Medical Genetics.

[24]  D. Eidelberg,et al.  Abnormal structure-function relationships in hereditary dystonia , 2009, Neuroscience.

[25]  Stefan Klöppel,et al.  Genotype–phenotype interactions in primary dystonias revealed by differential changes in brain structure , 2009, NeuroImage.

[26]  Michael K. Hutchinson,et al.  Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia. , 2009, Brain : a journal of neurology.

[27]  H. Voss,et al.  Cerebellothalamocortical Connectivity Regulates Penetrance in Dystonia , 2009, The Journal of Neuroscience.

[28]  S. Dalal,et al.  Interaction of TorsinA with Its Major Binding Partners Is Impaired by the Dystonia-associated ΔGAG Deletion* , 2009, The Journal of Biological Chemistry.

[29]  V. Dhawan,et al.  Abnormal striatal and thalamic dopamine neurotransmission , 2009, Neurology.

[30]  E. Altenmüller,et al.  Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study , 2009, The Lancet Neurology.

[31]  S. Bressman,et al.  Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study , 2009, The Lancet Neurology.

[32]  M. Vidailhet,et al.  The p.Asp216His TOR1A allele effect is not found in the French population , 2009, Movement disorders : official journal of the Movement Disorder Society.

[33]  I. König,et al.  THE D216H VARIANT IN THE DYT1 GENE: A SUSCEPTIBILITY FACTOR FOR DYSTONIA IN FAMILIAL CASES? , 2009, Neurology.

[34]  A. Berardelli,et al.  Brain‐derived neurotrophic factor and risk for primary adult‐onset cranial‐cervical dystonia , 2009, European journal of neurology.

[35]  A. Singleton,et al.  The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm , 2009, Movement disorders : official journal of the Movement Disorder Society.

[36]  S. Bressman,et al.  Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia , 2009, Nature Genetics.

[37]  L. Chin,et al.  TorsinA protein degradation and autophagy in DYT1 dystonia , 2009, Autophagy.

[38]  Giacomo Koch,et al.  A common polymorphism in the brain‐derived neurotrophic factor gene (BDNF) modulates human cortical plasticity and the response to rTMS , 2008, The Journal of physiology.

[39]  A. Sonnenberg,et al.  TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton , 2008, Journal of Cell Science.

[40]  L. Chin,et al.  Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope. , 2008, Human molecular genetics.

[41]  E. Chouery,et al.  A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12 , 2008, Neurogenetics.

[42]  T. Wichmann.  Commentary: Dopaminergic dysfunction in DYT1 dystonia , 2008, Experimental Neurology.

[43]  A. Kupsch,et al.  SUSCEPTIBILITY TO DYT1 DYSTONIA IN EUROPEAN PATIENTS IS MODIFIED BY THE D216H POLYMORPHISM , 2008, Neurology.

[44]  P. Huppke,et al.  Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1) , 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

[45]  L. Collinson,et al.  The Dystonia-associated Protein TorsinA Modulates Synaptic Vesicle Recycling* , 2008, Journal of Biological Chemistry.

[46]  S A Schneider,et al.  Neuropathology of primary adult-onset dystonia , 2008, Neurology.

[47]  D. Eidelberg,et al.  Microstructural white matter changes in primary torsion dystonia , 2008, Movement disorders : official journal of the Movement Disorder Society.

[48]  N. Risch,et al.  Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish–Mennonites , 2007, American journal of medical genetics. Part A.

[49]  A. Berardelli,et al.  Abnormal plasticity of sensorimotor circuits extends beyond the affected body part in focal dystonia , 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

[50]  N. Risch,et al.  Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. , 2007, American journal of human genetics.

[51]  M. Hallett,et al.  Do primary adult-onset focal dystonias share aetiological factors? , 2007, Brain : a journal of neurology.

[52]  M. Claustres,et al.  First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population , 2007, Movement disorders : official journal of the Movement Disorder Society.

[53]  X. Breakefield,et al.  Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells , 2007, Proceedings of the National Academy of Sciences.

[54]  S. Bressman,et al.  Obsessive‐compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene , 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[55]  C. Esapa,et al.  SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. , 2007, Human molecular genetics.

[56]  A. Singleton,et al.  Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm , 2007, Movement disorders : official journal of the Movement Disorder Society.

[57]  C. Mathé,et al.  The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes. , 2007, Blood.

[58]  T. Illig,et al.  Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia , 2006, Neurology.

[59]  Paolo Liberini,et al.  Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? , 2006, Brain : a journal of neurology.

[60]  G. Moretto,et al.  Atypical phenotypes and clinical variability in a large Italian family with DYT1–primary torsion dystonia , 2006, Movement disorders : official journal of the Movement Disorder Society.

[61]  D. Corey,et al.  Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. , 2006, Human molecular genetics.

[62]  X. Breakefield,et al.  Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics , 2006, Neurobiology of Disease.

[63]  D. Martino,et al.  Sensitivity and specificity of a self‐administered questionnaire for familial screening of adult‐onset dystonia , 2006, Movement disorders : official journal of the Movement Disorder Society.

[64]  A. Singleton,et al.  Lack of association with TorsinA haplotype in German patients with sporadic dystonia , 2006, Neurology.

[65]  W. Dauer,et al.  Loss of the Dystonia-Associated Protein TorsinA Selectively Disrupts the Neuronal Nuclear Envelope , 2005, Neuron.

[66]  S. Bressman,et al.  Sensory abnormalities in unaffected relatives in familial adult-onset dystonia , 2005, Neurology.

[67]  R. Lipton,et al.  A new screening tool for cervical dystonia , 2005, Neurology.

[68]  T. Fok,et al.  Early-onset primary torsional dystonia in a 4-generation Chinese family with a mutation in the DYT1 gene. , 2005, Chinese medical journal.

[69]  C. Mathé,et al.  The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[70]  A. Singleton,et al.  Torsin A haplotype predisposes to idiopathic dystonia , 2005, Annals of neurology.

[71]  J. Cooper,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 , 2005, Movement disorders : official journal of the Movement Disorder Society.

[72]  P. Hedera,et al.  Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family , 2005, Movement disorders : official journal of the Movement Disorder Society.

[73]  V. Dhawan,et al.  Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation , 2005, Neurology.

[74]  X. Breakefield,et al.  Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinA , 2004, Molecular and Cellular Neuroscience.

[75]  M. Caron,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. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[76]  Alexander Kapustin,et al.  Brainstem pathology in DYT1 primary torsion dystonia , 2004, Annals of neurology.

[77]  A. Berardelli,et al.  Validity of family history data on primary adult-onset dystonia. , 2004, Archives of neurology.

[78]  B. Jeon,et al.  DYT1 mutation in Korean primary dystonia patients. , 2004, Parkinsonism & related disorders.

[79]  N. Risch,et al.  Increased risk for recurrent major depression in DYT1 dystonia mutation carriers , 2004, Neurology.

[80]  X. Breakefield,et al.  TorsinA in the nuclear envelope. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[81]  D. Corey,et al.  The Early Onset Dystonia Protein TorsinA Interacts with Kinesin Light Chain 1* , 2004, Journal of Biological Chemistry.

[82]  V. Dhawan,et al.  Regional metabolism in primary torsion dystonia , 2004, Neurology.

[83]  H. Paulson,et al.  Aberrant Cellular Behavior of Mutant TorsinA Implicates Nuclear Envelope Dysfunction in DYT1 Dystonia , 2004, The Journal of Neuroscience.

[84]  D. Eidelberg,et al.  12 MICROSTRUCTURAL WHITE MATTER CHANGES IN CARRIERS OF THE DYT1 GENE MUTATION. , 2004, Journal of Investigative Medicine.

[85]  A. Bentivoglio,et al.  Phenotypic characterization of DYT13 primary torsion dystonia , 2004, Movement disorders : official journal of the Movement Disorder Society.

[86]  William T Dauer,et al.  Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[87]  K. Bhatia,et al.  Autosomal recessive, DYT2-like primary torsion dystonia , 2003, Neurology.

[88]  I. König,et al.  Candidate gene studies in focal dystonia , 2003, Neurology.

[89]  S. Bressman.  Dystonia: phenotypes and genotypes. , 2003, Revue neurologique.

[90]  Nicholas W Wood,et al.  Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation. , 2003, Brain : a journal of neurology.

[91]  M. Ghilardi,et al.  Impaired sequence learning in carriers of the DYT1 dystonia mutation , 2003, Annals of neurology.

[92]  M. Edwards,et al.  Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature , 2003, Movement disorders : official journal of the Movement Disorder Society.

[93]  A. Berardelli,et al.  Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia , 2003, Journal of neurology, neurosurgery, and psychiatry.

[94]  F. Amalric,et al.  THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies , 2003, Oncogene.

[95]  S. Augood,et al.  TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion , 2003, Neurobiology of Disease.

[96]  W. Poewe,et al.  The prevalence of primary dystonia in the general community , 2002, Neurology.

[97]  L. Ozelius,et al.  Classification and genetics of dystonia , 2002, The Lancet Neurology.

[98]  J. Meyniel,et al.  Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins. , 2002, Genomics.

[99]  Laurie Ozelius,et al.  Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm , 2002, Movement disorders : official journal of the Movement Disorder Society.

[100]  M. Zeviani,et al.  Frequency of DYT1 mutation in early onset primary dystonia in Italian patients , 2002, Movement disorders : official journal of the Movement Disorder Society.

[101]  K. Bhatia,et al.  A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm , 2002, Neurology.

[102]  B. Echenne,et al.  No evidence of allelic heterogeneity in theDYT1 gene of European patients with early onset torsion dystonia , 2001, Journal of medical genetics.

[103]  K. Chaudhuri,et al.  Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene , 2001, Journal of neurology, neurosurgery, and psychiatry.

[104]  Christine Klein,et al.  Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism , 2001, Neurogenetics.

[105]  N W Wood,et al.  DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset , 2001, Annals of neurology.

[106]  E. Cassetta,et al.  A prevalence study of primary dystonia in eight European countries , 2000, Journal of Neurology.

[107]  N. Quinn,et al.  A Yorkshire family with adult‐onset cranio‐cervical primary torsion dystonia , 2000, Movement disorders : official journal of the Movement Disorder Society.

[108]  Ronald D. Vale,et al.  Aaa Proteins , 2000, The Journal of cell biology.

[109]  C. Sabatti,et al.  The DYT1 phenotype and guidelines for diagnostic testing , 2000, Neurology.

[110]  Y. Agid,et al.  Frequency of the DYT1 mutation in primary torsion dystonia without family history. , 2000, Archives of neurology.

[111]  M. Brin,et al.  The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. , 1999, Genomics.

[112]  M. Mattson,et al.  Participation of prostate apoptosis response‐4 in degeneration of dopaminergic neurons in models of Parkinson's disease , 1999, Annals of neurology.

[113]  S. Limborska,et al.  A common 3‐bp deletion in the DYT1 gene in Russian families with early‐onset torsion dystonia , 1999, Human mutation.

[114]  D. Maraganore,et al.  Primary torsion dystonia: the search for genes is not over , 1999, Journal of neurology, neurosurgery, and psychiatry.

[115]  C. Marsden,et al.  The role of DYT1 in primary torsion dystonia in Europe. , 1998, Brain : a journal of neurology.

[116]  V. Dhawan,et al.  Functional brain networks in DYT1 dystonia , 1998, Annals of neurology.

[117]  T Gasser,et al.  Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset , 1998, Annals of neurology.

[118]  S Fahn,et al.  Tolcapone , 1998, Neurology.

[119]  M. Brin,et al.  Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families , 1997, Annals of neurology.

[120]  N. Risch,et al.  The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein , 1997, Nature Genetics.

[121]  R. Benecke,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. , 1996, Human molecular genetics.

[122]  N. Risch,et al.  Exclusion of the DYT1 locus in familial torticollis , 1996, Annals of neurology.

[123]  S. Fahn,et al.  Spread of symptoms in idiopathic torsion dystonia , 1995, Movement disorders : official journal of the Movement Disorder Society.

[124]  N. Risch,et al.  Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population , 1995, Nature Genetics.

[125]  S Fahn,et al.  Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation , 1994, Annals of neurology.

[126]  C. Marsden,et al.  A genetic study of idiopathic focal dystonias , 1991, Annals of neurology.

[127]  N. Risch,et al.  Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. , 1990, American journal of human genetics.

[128]  N Risch,et al.  Idiopathic dystonia among ashkenazi jews: Evidence for autosomal dominant inheritance , 1989, Annals of neurology.

[129]  N. Parker.  Hereditary whispering dysphonia. , 1985, Journal of neurology, neurosurgery, and psychiatry.

[130]  P. Dyken,et al.  Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies. , 1967, Psychiatria, neurologia, neurochirurgia.

[131]  Rou-shayn Chen,et al.  DYT1 mutation in a cohort of Taiwanese primary dystonias. , 2006, Parkinsonism & related disorders.

[132]  S. Bressman,et al.  Penetrance and expression of dystonia genes. , 2004, Advances in neurology.

[133]  D. Burn,et al.  Late‐onset axial jerky dystonia due to the DYT1 deletion , 2002, Movement disorders : official journal of the Movement Disorder Society.

[134]  R. Vale.  Mini-Review AAA Proteins: Lords of the Ring , 2000 .

[135]  A. F. Neuwald,et al.  Assembly , Operation , and Disassembly of Protein Complexes : A Class of Chaperone-Like ATPases Associated with the + AAA , 1999 .

[136]  Y. Agid,et al.  DYT1 mutation in French families with idiopathic torsion dystonia. , 1999, Brain : a journal of neurology.

[137]  C. Marsden,et al.  Evidence for locus heterogeneity in autosomal dominant torsion dystonia. , 1993, Genomics.

[138]  G. Defazio,et al.  Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia. , 1993, European neurology.

[139]  D. Maraganore,et al.  Adult onset familial cervical dystonia: Report of a family including monozygotic twins , 1993, Movement disorders : official journal of the Movement Disorder Society.

[140]  J. Nutt,et al.  Epidemiology of focal and generalized dystonia in Rochester, Minnesota , 1988, Movement disorders : official journal of the Movement Disorder Society.

[141]  J. Villanueva,et al.  Hereditary torsion dystonia in gypsies. , 1988, Advances in neurology.

[142]  D. Price,et al.  Primary dystonias: a review of the pathology and suggestions for new directions of study. , 1988, Advances in neurology.

[143]  S Fahn,et al.  Concept and classification of dystonia. , 1988, Advances in neurology.