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218 results

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Page 1
Nonprimary dystonias.
Dressler D. Dressler D. Handb Clin Neurol. 2011;100:513-38. doi: 10.1016/B978-0-444-52014-2.00038-0. Handb Clin Neurol. 2011. PMID: 21496605 Review.
Deep brain stimulation of the globus pallidus internus is effective for generalized dystonia. Antidystonic drugs, including anticholinergics, tetrabenazine, clozapine, and gamma-aminobutyric acid receptor agonists, are less effective and often produce adverse effect …
Deep brain stimulation of the globus pallidus internus is effective for generalized dystonia. Antidystonic drugs, including an …
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. ...
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. ...
Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into …
Isolated dystonia: clinical and genetic updates.
Domingo A, Yadav R, Ozelius LJ. Domingo A, et al. J Neural Transm (Vienna). 2021 Apr;128(4):405-416. doi: 10.1007/s00702-020-02268-x. Epub 2020 Nov 27. J Neural Transm (Vienna). 2021. PMID: 33247415 Review.
Four genes associated with isolated dystonia are currently well replicated and validated. DYT-THAP1 manifests as young-onset generalized dystonia with predominant craniocervical symptoms; and is associated with mostly deleterious missense variation in the THAP1 gene …
Four genes associated with isolated dystonia are currently well replicated and validated. DYT-THAP1 manifests as young-onset generalized …
Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration.
Chang X, Zhang J, Jiang Y, Wang J, Wu Y. Chang X, et al. CNS Neurosci Ther. 2020 Jul;26(7):754-761. doi: 10.1111/cns.13294. Epub 2020 Feb 11. CNS Neurosci Ther. 2020. PMID: 32043823 Free PMC article. Review.
In the early-onset group, the median interval between the disease onset and occurrence of oromandibular dystonia, generalized dystonia, loss of independent ambulance was 6.0 years, 5.0 years, and 5.0 years. ...
In the early-onset group, the median interval between the disease onset and occurrence of oromandibular dystonia, generalized dyst …
Overview of primary monogenic dystonia.
Spatola M, Wider C. Spatola M, et al. Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S158-61. doi: 10.1016/S1353-8020(11)70049-9. Parkinsonism Relat Disord. 2012. PMID: 22166420 Review.
The pure dystonia syndrome early-onset primary dystonia (DYT1) manifests with dominantly-inherited generalized dystonia, often with focal onset in a limb. DYT1 is caused by a GAG deletion in the TOR1A gene. ...
The pure dystonia syndrome early-onset primary dystonia (DYT1) manifests with dominantly-inherited generalized dystonia, often …
Complications of Deep Brain Stimulation for Movement Disorders: Literature Review and Personal Experience.
Shashkin C. Shashkin C. Acta Neurochir Suppl. 2023;130:121-126. doi: 10.1007/978-3-030-12887-6_15. Acta Neurochir Suppl. 2023. PMID: 37548731 Review.
The contemporary technique of deep brain stimulation (DBS) is very effective for management of movement disorders-including Parkinson's disease, generalized dystonia, and tremors-and has also been successfully applied for novel indications (e.g., intractable epileps …
The contemporary technique of deep brain stimulation (DBS) is very effective for management of movement disorders-including Parkinson's dise …
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 …
Dystonia--new advances in classification, genetics, pathophysiology and treatment.
Skogseid IM. Skogseid IM. Acta Neurol Scand Suppl. 2014;(198):13-9. doi: 10.1111/ane.12231. Acta Neurol Scand Suppl. 2014. PMID: 24588501 Review.
The discovery of the first two gene mutations causing primary generalized dystonia (DYT1-TOR1A and DYT6-THAP1) has facilitated studies on pathogenesis and pathophysiology of primary dystonias, by comparing neurophysiology between manifesting and non-manifesting carr …
The discovery of the first two gene mutations causing primary generalized dystonia (DYT1-TOR1A and DYT6-THAP1) has facilitated …
Animal models of generalized dystonia.
Raike RS, Jinnah HA, Hess EJ. Raike RS, et al. NeuroRx. 2005 Jul;2(3):504-12. doi: 10.1602/neurorx.2.3.504. NeuroRx. 2005. PMID: 16389314 Free PMC article. Review.
The neurochemical and neurophysiological abnormalities in rodents with idiopathic generalized dystonia suggest that dysfunctional output from basal ganglia, cerebellum, or from multiple systems is the cause of motor dysfunction. ...
The neurochemical and neurophysiological abnormalities in rodents with idiopathic generalized dystonia suggest that dysfunctio …
218 results