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Quoted phrase not found in phrase index: "Familial idiopathic torsion dystonia"
Page 1
DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
Bally JF, Camargos S, Oliveira Dos Santos C, Kern DS, Lee T, Pereira da Silva-Junior F, Puga RD, Cardoso F, Barbosa ER, Yadav R, Ozelius LJ, de Carvalho Aguiar P, Lang AE. Bally JF, et al. Neurology. 2021 Apr 6;96(14):e1887-e1897. doi: 10.1212/WNL.0000000000010882. Epub 2020 Sep 17. Neurology. 2021. PMID: 32943487 Free PMC article.
OBJECTIVE: To report 4 novel TUBB4A mutations leading to laryngeal and cervical dystonia with frequent generalization. METHODS: We screened 4 families including a total of 11 definitely affected members with a clinical picture resembling the original description. .. …
OBJECTIVE: To report 4 novel TUBB4A mutations leading to laryngeal and cervical dystonia with frequent generalization. METHODS: We sc …
Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
Fasano A, Nardocci N, Elia AE, Zorzi G, Bentivoglio AR, Albanese A. Fasano A, et al. Mov Disord. 2006 Sep;21(9):1411-8. doi: 10.1002/mds.21000. Mov Disord. 2006. PMID: 16773641 Review.
To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease dura …
To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterize …
Cervical dystonia (spasmodic torticollis). Some aspects of the natural history.
Van Zandijcke M. Van Zandijcke M. Acta Neurol Belg. 1995 Dec;95(4):210-5. Acta Neurol Belg. 1995. PMID: 8553794 Review.
Sometimes, there are personal or familial extrapyramidal antecedents (tremor, dystonia). The role of a preceding neck or head trauma is unsettled. ...In a third of the cases, there is a progression to segmental dystonia. In about 20% of the patients a spontan …
Sometimes, there are personal or familial extrapyramidal antecedents (tremor, dystonia). The role of a preceding neck or head …
Linkage analysis in British and French families with idiopathic torsion dystonia.
Warner TT, Fletcher NA, Davis MB, Ahmad F, Conway D, Feve A, Rondot P, Marsden CD, Harding AE. Warner TT, et al. Brain. 1993 Jun;116 ( Pt 3):739-44. doi: 10.1093/brain/116.3.739. Brain. 1993. PMID: 8513401
Analysis of all the data using HOMOG showed significant heterogeneity, but evidence for linkage of an idiopathic torsion dystonia gene to 9q34 in a subset of families. The allelic association observed between ASS/ABL and idiopathic tor …
Analysis of all the data using HOMOG showed significant heterogeneity, but evidence for linkage of an idiopathic torsion dy …
Onset and progression of primary torsion dystonia in sporadic and familial cases.
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A. Elia AE, et al. Eur J Neurol. 2006 Oct;13(10):1083-8. doi: 10.1111/j.1468-1331.2006.01387.x. Eur J Neurol. 2006. PMID: 16987160
Four hundred and sixty records of patients with primary torsion dystonia (296 women and 164 men) were evaluated. The mean age at disease onset was 48.3 +/- 17.7 years; 13 patients carried the DYT1 CAG deletion. ...Familial cases were characterized by more sit …
Four hundred and sixty records of patients with primary torsion dystonia (296 women and 164 men) were evaluated. The mean age …
Clinical features of Meige's disease (idiopathic orofacial dystonia): a report of 17 cases.
Tolosa ES. Tolosa ES. Arch Neurol. 1981 Mar;38(3):147-51. doi: 10.1001/archneur.1981.00510030041005. Arch Neurol. 1981. PMID: 7469847
Seventeen patients with prominent orofacial dystonia of unknown cause (idiopathic orofacial dystonia: Meige's disease) were examined and several clinical features seen that, to my knowledge, had previously not been recognized. ...The "spasm facial median" of …
Seventeen patients with prominent orofacial dystonia of unknown cause (idiopathic orofacial dystonia: Meige's disease) …
A genetic study of torsion dystonia.
Bundey S, Harrison MJ, Marsden CD. Bundey S, et al. J Med Genet. 1975 Mar;12(1):12-9. doi: 10.1136/jmg.12.1.12. J Med Genet. 1975. PMID: 1121020 Free PMC article.
A family study of 32 patients with torsion dystonia has shown at least two forms of generalized dystonia with onset in childhood. ...The majority of adult-onset isolated cases of idiopathic torsion dystonia seem to be due to exogen …
A family study of 32 patients with torsion dystonia has shown at least two forms of generalized dystonia with on …
Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.
Kimmich O, Bradley D, Whelan R, Mulrooney N, Reilly RB, Hutchinson S, O'Riordan S, Hutchinson M. Kimmich O, et al. Brain. 2011 Sep;134(Pt 9):2656-63. doi: 10.1093/brain/awr194. Epub 2011 Aug 11. Brain. 2011. PMID: 21840890
Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. ...The frequency of abnormal temporal dis …
Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadi …
The DYT1 phenotype and guidelines for diagnostic testing.
Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, Brin MF, Fahn S, Breakefield X, Ozelius LJ, Risch NJ. Bressman SB, et al. Neurology. 2000 May 9;54(9):1746-52. doi: 10.1212/wnl.54.9.1746. Neurology. 2000. PMID: 10802779
OBJECTIVE: To develop diagnostic testing guidelines for the DYT1 GAG deletion in the Ashkenazi Jewish (AJ) and non-Jewish (NJ) primary torsion dystonia (PTD) populations and to determine the range of dystonic features in affected DYT1 deletion carriers. ...We used p …
OBJECTIVE: To develop diagnostic testing guidelines for the DYT1 GAG deletion in the Ashkenazi Jewish (AJ) and non-Jewish (NJ) primary to …
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C. Lohmann K, et al. Ann Neurol. 2013 Apr;73(4):537-45. doi: 10.1002/ana.23829. Epub 2013 Apr 17. Ann Neurol. 2013. PMID: 23595291 Free PMC article.
OBJECTIVE: A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family. ...INT …
OBJECTIVE: A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia c …
39 results