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Progression of Dysphagia in Spinocerebellar Ataxia Type 6.
Isono C, Hirano M, Sakamoto H, Ueno S, Kusunoki S, Nakamura Y. Isono C, et al. Dysphagia. 2017 Jun;32(3):420-426. doi: 10.1007/s00455-016-9771-1. Epub 2017 Jan 2. Dysphagia. 2017. PMID: 28042641
Spinocerebellar ataxia type 6 (SCA6), an autosomal dominant triplet repeat disease, predominantly affects the cerebellum with a late onset and generally good prognosis. Dysphagia is commonly associated with the outcomes of neurodegenerative diseases such as SCA6. ...This f …
Spinocerebellar ataxia type 6 (SCA6), an autosomal dominant triplet repeat disease, predominantly affects the cerebellum with a late onset a …
Spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity.
Mark MD, Krause M, Boele HJ, Kruse W, Pollok S, Kuner T, Dalkara D, Koekkoek S, De Zeeuw CI, Herlitze S. Mark MD, et al. J Neurosci. 2015 Jun 10;35(23):8882-95. doi: 10.1523/JNEUROSCI.0891-15.2015. J Neurosci. 2015. PMID: 26063920 Free PMC article.
To test this hypothesis, we expressed P/Q-type channel protein fragments from two different human CT splice variants, as predicted from SCA6 patients, in PCs of mice using viral and transgenic approaches. ...
To test this hypothesis, we expressed P/Q-type channel protein fragments from two different human CT splice variants, as predicted fr …
Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations.
Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM. Geschwind DH, et al. Neurology. 1997 Nov;49(5):1247-51. doi: 10.1212/wnl.49.5.1247. Neurology. 1997. PMID: 9371902
Most patients show progressive ataxia from the onset, but several patients show an episodic course resembling EA-2. Thus, SCA6 mutations not only account for patients with ADCA I and ADCA III phenotypes but also for some patients presenting with episodic features that are …
Most patients show progressive ataxia from the onset, but several patients show an episodic course resembling EA-2. Thus, SCA6 mutati …
Resting-state functional connectivity and cognitive dysfunction correlations in spinocerebelellar ataxia type 6 (SCA6).
Pereira L, Airan RD, Fishman A, Pillai JJ, Kansal K, Onyike CU, Prince JL, Ying SH, Sair HI. Pereira L, et al. Hum Brain Mapp. 2017 Jun;38(6):3001-3010. doi: 10.1002/hbm.23568. Epub 2017 Mar 15. Hum Brain Mapp. 2017. PMID: 28295805 Free PMC article.
Whole brain gray matter was automatically parcellated into 1000 regions of interest (ROIs). For each ROI, the first eigenvariate of voxel time courses was extracted. For each patient, Pearson correlation coefficients between each pair of ROI time courses were calcul …
Whole brain gray matter was automatically parcellated into 1000 regions of interest (ROIs). For each ROI, the first eigenvariate of voxel ti …
Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6.
Yu-Wai-Man P, Gorman G, Bateman DE, Leigh RJ, Chinnery PF. Yu-Wai-Man P, et al. J Neurol. 2009 Jan;256(1):78-82. doi: 10.1007/s00415-009-0068-2. Epub 2009 Feb 9. J Neurol. 2009. PMID: 19224313
Patients frequently describe paroxysmal vertigo early in the disease course, but it is not clear whether this is central or labyrinthine in origin. ...
Patients frequently describe paroxysmal vertigo early in the disease course, but it is not clear whether this is central or labyrinth …
Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
Diallo A, Jacobi H, Cook A, Giunti P, Parkinson MH, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Castaldo A, Rakowicz M, Rola R, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Nachbauer W, Pandolfo M, Schulz JB, Bauer P, Jun-Suk K, Klockgether T, Tezenas du Montcel S. Diallo A, et al. Mov Disord. 2019 Aug;34(8):1220-1227. doi: 10.1002/mds.27739. Epub 2019 Jun 18. Mov Disord. 2019. PMID: 31211461
Joint model was used to analyze disease progression and survival. RESULTS: Disease progression was the strongest predictor for death in all genotypes: An increase of 1 standard deviation in total Scale for the Assessment and Rating of Ataxia score increased the risk of dea …
Joint model was used to analyze disease progression and survival. RESULTS: Disease progression was the strongest predictor for death …
Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6.
Pastor PDH, Du X, Fazal S, Davies AN, Gomez CM. Pastor PDH, et al. Cerebellum. 2018 Feb;17(1):72-77. doi: 10.1007/s12311-018-0917-6. Cerebellum. 2018. PMID: 29374372 Free PMC article.
We studied three human miRNAs (miRNA-711, -3191-5p, -4786) that would potentially bind to sequences within the CACNA1A IRES region, based on an miRNA prediction program. Only miRNA-3191-5p was found to selectively inhibit the translation of alpha1ACT in cells. ...
We studied three human miRNAs (miRNA-711, -3191-5p, -4786) that would potentially bind to sequences within the CACNA1A IRES region, based on …
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen JT, Riess O. Schöls L, et al. J Neurol Neurosurg Psychiatry. 1998 Jan;64(1):67-73. doi: 10.1136/jnnp.64.1.67. J Neurol Neurosurg Psychiatry. 1998. PMID: 9436730 Free PMC article.
By comparison with SCA1, SCA2, and SCA3 no clinical or electrophysiological finding was specific for SCA6. Therefore, the molecular defect cannot be predicted from clinical investigations. In Germany, SCA6 accounts for about 13% of families with ADCA. ...
By comparison with SCA1, SCA2, and SCA3 no clinical or electrophysiological finding was specific for SCA6. Therefore, the molecular defect c …
Impaired Spatio-Temporal Predictive Motor Timing Associated with Spinocerebellar Ataxia Type 6.
Broersen R, Onuki Y, Abdelgabar AR, Owens CB, Picard S, Willems J, Boele HJ, Gazzola V, Van der Werf YD, De Zeeuw CI. Broersen R, et al. PLoS One. 2016 Aug 29;11(8):e0162042. doi: 10.1371/journal.pone.0162042. eCollection 2016. PLoS One. 2016. PMID: 27571363 Free PMC article. Clinical Trial.
We found that healthy controls established spatio-temporal prediction in their responses with high temporal precision, which was absent in the cerebellar patients. SCA6 patients showed lower predictive motor timing, coinciding with a reduced number of correct respon …
We found that healthy controls established spatio-temporal prediction in their responses with high temporal precision, which was abse …
21 results