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Quoted phrase not found in phrase index: "Dystonia 25"
Page 1
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA. Pérez-Dueñas B, et al. Mov Disord. 2022 Nov;37(11):2197-2209. doi: 10.1002/mds.29182. Epub 2022 Aug 25. Mov Disord. 2022. PMID: 36054588 Free PMC article.
In the majority, hyperkinetic movements were generalized (77%), with most patients (69%) manifesting combined motor semiologies. Parkinsonism-dystonia was characteristic of primary neurotransmitter disorders (DDC, DHPR, PTPS, SLC6A3, SPR, TH); chorea predominated in …
In the majority, hyperkinetic movements were generalized (77%), with most patients (69%) manifesting combined motor semiologies. Parkinsonis …
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znacz… See abstract for full author list ➔ Cif L, et al. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
We report new disease presentations, including atypical patterns of dystonia evolution and a subgroup of patients with a non-dystonic neurodevelopmental phenotype. ...In the long-term deep brain stimulation cohort (deep brain stimulation inserted for >5 years, n …
We report new disease presentations, including atypical patterns of dystonia evolution and a subgroup of patients with a non-dysto …
Hypertonia Assessment Tool.
Marsico P, Frontzek-Weps V, Balzer J, van Hedel HJ. Marsico P, et al. J Child Neurol. 2017 Jan;32(1):132-138. doi: 10.1177/0883073816671681. Epub 2016 Oct 15. J Child Neurol. 2017. PMID: 27742862
The Hypertonia Assessment Tool is a 7-item instrument that discriminates spasticity, dystonia, and rigidity on 3 levels: item scores, subtype, and hypertonia diagnosis for each extremity. ...The Hypertonia Assessment Tool showed good agreement in detecting spasticit …
The Hypertonia Assessment Tool is a 7-item instrument that discriminates spasticity, dystonia, and rigidity on 3 levels: item scor …
Dystonia-plus syndromes.
Asmus F, Gasser T. Asmus F, et al. Eur J Neurol. 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. Eur J Neurol. 2010. PMID: 20590807 Review.
Both features together with an age at onset below 25 years strongly predict SGCE mutation in M-D and differentiate this genetic disease from other 'jerky' dystonias. The combination of dystonia and parkinsonism can only be rarely observed in non …
Both features together with an age at onset below 25 years strongly predict SGCE mutation in M-D and differentiate this geneti …
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group. Traschütz A, et al. Neurology. 2021 Mar 2;96(9):e1369-e1382. doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25. Neurology. 2021. PMID: 33495376 Free PMC article.
Visual compensation, sensory symptoms, and cough were strong positive discriminative predictors (>90%) against RFC1-negative patients. The phenotype across 70 RFC1-positive patients was mostly multisystemic (69%), including dysautonomia (62%) and bradykinesia (28%) (ove …
Visual compensation, sensory symptoms, and cough were strong positive discriminative predictors (>90%) against RFC1-negative patie …
Paraneoplastic neurological syndromes.
Graus F, Dalmau J. Graus F, et al. Curr Opin Neurol. 2012 Dec;25(6):795-801. doi: 10.1097/WCO.0b013e328359da15. Curr Opin Neurol. 2012. PMID: 23041955 Free PMC article. Review.
Isolated myelopathy may have a paraneoplastic origin associated with amphiphysin or CV2 (CRMP5) antibodies. Jaw dystonia and laryngospasm can be the predominant symptom of the brainstem encephalitis associated with Ri antibodies. gamma-Aminobutyric acid (GABA)(B) receptor …
Isolated myelopathy may have a paraneoplastic origin associated with amphiphysin or CV2 (CRMP5) antibodies. Jaw dystonia and laryngos …
Smell and taste in cervical dystonia.
Herr T, Hummel T, Vollmer M, Willert C, Veit B, Gamain J, Fleischmann R, Lehnert B, Mueller JU, Stenner A, Kronenbuerger M. Herr T, et al. J Neural Transm (Vienna). 2020 Mar;127(3):347-354. doi: 10.1007/s00702-020-02156-4. Epub 2020 Feb 15. J Neural Transm (Vienna). 2020. PMID: 32062706 Free PMC article.
Regression analysis suggests that age is the main predictor for olfactory decline in subjects with cervical dystonia. Moreover, performance in the Montreal Cognitive Assessment is a predictor for gustatory decline in cervical dystonia subjects. Finding …
Regression analysis suggests that age is the main predictor for olfactory decline in subjects with cervical dystonia. Moreover …
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Masnada S, Sarret C, Antonello CE, Fadilah A, Krude H, Mura E, Mordekar S, Nicita F, Olivotto S, Orcesi S, Porta F, Remerand G, Siri B, Wilpert NM, Amir-Yazdani P, Bertini E, Schuelke M, Bernard G, Boespflug-Tanguy O, Tonduti D. Masnada S, et al. Mol Genet Metab. 2022 Jan;135(1):109-113. doi: 10.1016/j.ymgme.2021.12.003. Epub 2021 Dec 16. Mol Genet Metab. 2022. PMID: 34969638
The type of MD was blindly scored by two child neurologists experts in inherited white matter diseases and in MD. Dystonia was scored according to Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). ...Dystonia was observed in 25/27 patients, how …
The type of MD was blindly scored by two child neurologists experts in inherited white matter diseases and in MD. Dystonia was scored …
Deep brain stimulation for chorea-acanthocytosis: a systematic review.
Wu Y, Xu YY, Gao Y, Li JM, Liu XW, Wang MQ, Deng H, Xiao LL, Ren HB, Xiong BT, Pan W, Zhou XW, Wang W. Wu Y, et al. Neurosurg Rev. 2022 Jun;45(3):1861-1871. doi: 10.1007/s10143-022-01735-1. Epub 2022 Jan 12. Neurosurg Rev. 2022. PMID: 35020105 Review.
Symptoms seemed to be easier relieved in chorea (88.5%) and dystonia (76.9%) but dysarthria of most patients (85.7%) was no response after DBS. The Unified Huntington's Disease Rating Scale-Motor Score was used to assess the efficacy of DBS in 25 patients; th …
Symptoms seemed to be easier relieved in chorea (88.5%) and dystonia (76.9%) but dysarthria of most patients (85.7%) was no response …
TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.
Tian WT, Zhan FX, Liu ZH, Liu Z, Liu Q, Guo XN, Zhou ZW, Wang SG, Liu XR, Jiang H, Li XH, Zhao GH, Li HY, Tang JG, Bi GH, Zhong P, Yin XM, Liu TT, Ni RL, Zheng HR, Liu XL, Qian XH, Wu JY, Cao YW, Zhang C, Liu SH, Wu YY, Wang QF, Xu T, Hou WZ, Li ZY, Ke HY, Zhu ZY, Zheng L, Wang T, Rong TY, Wu L, Zhang Y, Fang K, Wang ZH, Zhang YK, Zhang M, Zhao YW, Tang BS, Luan XH, Huang XJ, Cao L. Tian WT, et al. Mov Disord. 2022 Mar;37(3):545-552. doi: 10.1002/mds.28865. Epub 2021 Nov 24. Mov Disord. 2022. PMID: 34820915
METHODS: A cohort of 196 PRRT2-negative PKD probands were enrolled for whole-exome sequencing (WES). Gene Ranking, Identification and Prediction Tool, a method of case-control analysis, was applied to identify the candidate genes. ...RESULTS: Transmembrane Protein 151 (TME …
METHODS: A cohort of 196 PRRT2-negative PKD probands were enrolled for whole-exome sequencing (WES). Gene Ranking, Identification and Pre …
392 results