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2000 3
2001 4
2002 3
2003 12
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200 results

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Page 1
Pallidotomy for Dystonia.
Garg K, Samala R, Agrawal M, Rajan R, Singh M. Garg K, et al. Neurol India. 2020 Nov-Dec;68(Supplement):S322-S324. doi: 10.4103/0028-3886.302460. Neurol India. 2020. PMID: 33318369 Free article.
OBJECTIVE: The aim of this study was to present the surgical technique and nuances involved in bilateral simultaneous pallidotomy in a patient with generalized dystonia. PROCEDURE: A 30-year male with primary generalized dystonia presented to us with p …
OBJECTIVE: The aim of this study was to present the surgical technique and nuances involved in bilateral simultaneous pallidotomy in a patie …
Update on KMT2B-Related Dystonia.
Zech M, Lam DD, Winkelmann J. Zech M, et al. Curr Neurol Neurosci Rep. 2019 Nov 25;19(11):92. doi: 10.1007/s11910-019-1007-y. Curr Neurol Neurosci Rep. 2019. PMID: 31768667 Review.
DYT-KMT2B is characterized phenotypically by limb-onset childhood dystonia that tends to spread progressively, resulting in generalized dystonia with cranio-cervical involvement. Co-occuring signs such as intellectual disability are frequently observed. ...Pr …
DYT-KMT2B is characterized phenotypically by limb-onset childhood dystonia that tends to spread progressively, resulting in generalized …
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.
Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. ...In the long-term deep brain stimulati …
Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into …
Dystonia: clinical approach.
Albanese A. Albanese A. Parkinsonism Relat Disord. 2007;13 Suppl 3:S356-61. doi: 10.1016/S1353-8020(08)70030-0. Parkinsonism Relat Disord. 2007. PMID: 18267264 Review.
The movement can affect one, two or more body regions, as in focal, segmental or generalized dystonia. Dystonic movements display specific features that can be recognised by clinical observation, such as speed, consistency, predictability, variability …
The movement can affect one, two or more body regions, as in focal, segmental or generalized dystonia. Dystonic movements disp …
Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?
Ahn JH, Kim AR, Park WY, Cho JW, Park J, Youn J. Ahn JH, et al. Parkinsonism Relat Disord. 2023 Oct;115:105814. doi: 10.1016/j.parkreldis.2023.105814. Epub 2023 Aug 17. Parkinsonism Relat Disord. 2023. PMID: 37607452
RESULTS: Of the 43 patients, we detected 11 disease-causing variants, classified as either pathogenic or likely pathogenic, in 9 patients (20.9%). Generalized dystonia, infancy-childhood-onset dystonia, and other combined neurologic manifestations were related with …
RESULTS: Of the 43 patients, we detected 11 disease-causing variants, classified as either pathogenic or likely pathogenic, in 9 patients (2 …
Neurodegeneration with brain iron accumulation.
Dusek P, Schneider SA. Dusek P, et al. Curr Opin Neurol. 2012 Aug;25(4):499-506. doi: 10.1097/WCO.0b013e3283550cac. Curr Opin Neurol. 2012. PMID: 22691760 Review.
A phase-II pilot study did not find any clinical improvement after chelating treatment in a group of PKAN patients. However, benefits of chelating treatment have been observed in individual patients with PKAN and idiopathic NBIA in another study. ...While chelating treatme …
A phase-II pilot study did not find any clinical improvement after chelating treatment in a group of PKAN patients. However, benefits of che …
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Lange LM, Junker J, Loens S, Baumann H, Olschewski L, Schaake S, Madoev H, Petkovic S, Kuhnke N, Kasten M, Westenberger A, Domingo A, Marras C, König IR, Camargos S, Ozelius LJ, Klein C, Lohmann K. Lange LM, et al. Mov Disord. 2021 May;36(5):1086-1103. doi: 10.1002/mds.28485. Epub 2021 Jan 27. Mov Disord. 2021. PMID: 33502045 Review.
However, in most DYT-THAP1 and DYT-ANO3 patients, dystonia first manifested in the upper half of the body (upper limb, neck, and craniofacial/laryngeal), whereas onset in DYT-TOR1A, DYT-PRKRA and DYT-HPCA was frequently observed in an extremity, including both upper and lo …
However, in most DYT-THAP1 and DYT-ANO3 patients, dystonia first manifested in the upper half of the body (upper limb, neck, and craniofacia …
Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants.
Li XY, Dai LF, Wan XH, Guo Y, Dai Y, Li SL, Fang F, Wang XH, Zhang WH, Liu TH, Xie ZH, Fang T, Wang L, Ding CH. Li XY, et al. Parkinsonism Relat Disord. 2020 Aug;77:76-82. doi: 10.1016/j.parkreldis.2020.06.002. Epub 2020 Jun 9. Parkinsonism Relat Disord. 2020. PMID: 32634684
BACKGROUND: KMT2B-related dystonia is a recently discovered hereditary dystonia that mostly occurs in childhood. This dystonia usually progresses to generalized dystonia with cervical, cranial, pharynx and larynx involvement. ...The mean follow-up time was 4.9 (rang …
BACKGROUND: KMT2B-related dystonia is a recently discovered hereditary dystonia that mostly occurs in childhood. This dystonia usually progr …
Deep brain stimulation in dystonia: State of art and future directions.
Macerollo A, Sajin V, Bonello M, Barghava D, Alusi SH, Eldridge PR, Osman-Farah J. Macerollo A, et al. J Neurosci Methods. 2020 Jul 1;340:108750. doi: 10.1016/j.jneumeth.2020.108750. Epub 2020 Apr 25. J Neurosci Methods. 2020. PMID: 32344043 Review.
Careful phenotyping of idiopathic as well as inherited dystonias and accurate diagnosis of acquired dystonias informs the decision-making process for patients and clinicians by providing them with useful predictors of outcomes of the proposed surgery. Here, we provided a r …
Careful phenotyping of idiopathic as well as inherited dystonias and accurate diagnosis of acquired dystonias informs the decision-making pr …
Deep brain stimulation in dystonia.
Kupsch A, Kuehn A, Klaffke S, Meissner W, Harnack D, Winter C, Haelbig TD, Kivi A, Arnold G, Einhäupl KM, Schneider GH, Trottenberg T. Kupsch A, et al. J Neurol. 2003 Feb;250 Suppl 1:I47-52. doi: 10.1007/s00415-003-1110-2. J Neurol. 2003. PMID: 12761637 Review.
Similar results may also be obtained in patients with idiopathic generalized dystonia, myoclonus-dystonia syndrome, and tardive dystonia. Substantial improvement has been observed in patients with focal dystonia (for instance cervical dystonia). ...
Similar results may also be obtained in patients with idiopathic generalized dystonia, myoclonus-dystonia syndrome, and tardiv …
200 results