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Quoted phrase not found in phrase index: "Torsion dystonia 4"
Page 1
Dystonia.
Bressman SB. Bressman SB. Curr Opin Neurol. 1998 Aug;11(4):363-72. doi: 10.1097/00019052-199808000-00013. Curr Opin Neurol. 1998. PMID: 9725083 Review.
Many different disorders have dystonia as the only or primary sign. The list of causes for dystonia increases yearly and now includes three mapped loci for primary torsion dystonia, although other susceptibility genes are suspected. Study of one of the …
Many different disorders have dystonia as the only or primary sign. The list of causes for dystonia increases yearly and now i …
Genetics of primary torsion dystonia.
Brüggemann N, Klein C. Brüggemann N, et al. Curr Neurol Neurosci Rep. 2010 May;10(3):199-206. doi: 10.1007/s11910-010-0107-5. Curr Neurol Neurosci Rep. 2010. PMID: 20425035 Review.
Currently, 20 monogenic forms of dystonia, designated by the acronym DYT, are grouped as 1) pure dystonias, 2) dystonia-plus syndromes, and 3) paroxysmal dystonias/dyskinesias. We summarize recently discovered genes and loci, including the 1) detection of two primar …
Currently, 20 monogenic forms of dystonia, designated by the acronym DYT, are grouped as 1) pure dystonias, 2) dystonia-plus s …
Pallidal degenerations and related disorders: an update.
Jellinger KA. Jellinger KA. J Neural Transm (Vienna). 2022 Jun;129(5-6):521-543. doi: 10.1007/s00702-021-02392-2. Epub 2021 Aug 7. J Neural Transm (Vienna). 2022. PMID: 34363531 Review.
One of the latter, and both PPND and DRPLA are particular subcortical 4-R tauopathies, related to progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and frontotemporal lobe degeneration-17 (FTLD-17), while others show additional 3-R and 4-R tauopa …
One of the latter, and both PPND and DRPLA are particular subcortical 4-R tauopathies, related to progressive supranuclear palsy (PSP …
Sleep and degenerative neurologic disorders.
Chokroverty S. Chokroverty S. Neurol Clin. 1996 Nov;14(4):807-26. doi: 10.1016/s0733-8619(05)70286-3. Neurol Clin. 1996. PMID: 8923496 Review.
X-Linked Dystonia-Parkinsonism ("Lubag") May Present with Peripheral Synucleinopathy.
Evidente VGH, Evidente DH, Ortega SC, Levine TD, Freeman R, Gibbons CH. Evidente VGH, et al. Mov Disord. 2022 Jan;37(1):130-136. doi: 10.1002/mds.28801. Epub 2021 Sep 28. Mov Disord. 2022. PMID: 34582053
BACKGROUND: X-linked dystonia parkinsonism (XDP) or "Lubag" is a genetic dystonia syndrome observed among Filipinos that can present with levodopa-responsive parkinsonism and abnormal dopamine transporter (DAT) imaging. ...RESULTS: We report 6 patients who carried t …
BACKGROUND: X-linked dystonia parkinsonism (XDP) or "Lubag" is a genetic dystonia syndrome observed among Filipinos that can p …
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. ...Cervical dystonia has important psychosocial consequences: many patients have to withdraw from their job or from soc …
Sometimes, there are personal or familial extrapyramidal antecedents (tremor, dystonia). The role of a preceding neck or head trauma …
Understanding Psychiatric Disorders in Idiopathic and Inherited (Monogenic) Forms of Isolated and Combined Dystonia: A Systematic Review.
Lane V, Lane M, Sturrock A, Rickards H. Lane V, et al. J Neuropsychiatry Clin Neurosci. 2021 Fall;33(4):295-306. doi: 10.1176/appi.neuropsych.20110293. Epub 2021 Jul 19. J Neuropsychiatry Clin Neurosci. 2021. PMID: 34280321
Eligible articles were quality appraised and divided into four sections (idiopathic forms of dystonia [N=11], early-onset torsion dystonia [N=2], gene mutation positive myoclonus dystonia; DYT-SGCE [N=6], and rapid-onset dystonia-parkinsonism [N …
Eligible articles were quality appraised and divided into four sections (idiopathic forms of dystonia [N=11], early-onset torsion …
Primary torsion dystonia.
Grundmann K. Grundmann K. Arch Neurol. 2005 Apr;62(4):682-5. doi: 10.1001/archneur.62.4.682. Arch Neurol. 2005. PMID: 15824274 No abstract available.
Reliability of Low-dose Biplanar Radiography in Assessing Pediatric Torsional Pathology.
Brooks JT, Bomar JD, Jeffords ME, Farnsworth CL, Pennock AT, Upasani VV. Brooks JT, et al. J Pediatr Orthop. 2021 Jan;41(1):33-39. doi: 10.1097/BPO.0000000000001700. J Pediatr Orthop. 2021. PMID: 33055518
Bland-Altman analyses showed a fixed bias with a mean difference of -5.68.8 degrees between femoral torsion measurements in LDBRs versus 3D CT/MRIs (P=0.001); 15% (5/34) of femurs had a clinically significant measurement discrepancy. Fixed bias for LDBR measurements compar …
Bland-Altman analyses showed a fixed bias with a mean difference of -5.68.8 degrees between femoral torsion measurements in LDBRs ver …
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. ...The mean age at onset of familial cases was 44.8 +/- …
Four hundred and sixty records of patients with primary torsion dystonia (296 women and 164 men) were evaluated. The mean age …
46 results