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Page 1
Trinucleotide repeat disorders.
Den Dunnen WFA. Den Dunnen WFA. Handb Clin Neurol. 2017;145:383-391. doi: 10.1016/B978-0-12-802395-2.00027-4. Handb Clin Neurol. 2017. PMID: 28987184 Review.
This group can be divided into CAG- versus non-CAG-repeat diseases. Apart from spinocerebellar ataxia type 6 and 12 (SCA6 and SCA12), these CAG-repeat diseases, as well as Huntington disease-like 2 (HDL2) and SCA8, can be neuropathologically identified …
This group can be divided into CAG- versus non-CAG-repeat diseases. Apart from spinocerebellar ataxia type 6 and …
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. ...Ischemic changes, homozygous mutation, and diabetes mellitus as well as aging mi …
Spinocerebellar ataxia type 6 (SCA6), an autosomal dominant triplet repeat disease, predominantly affects the ce …
Cognitive dysfunction in patients with spinocerebellar ataxia type 6.
Tamura I, Takei A, Hamada S, Nonaka M, Kurosaki Y, Moriwaka F. Tamura I, et al. J Neurol. 2017 Feb;264(2):260-267. doi: 10.1007/s00415-016-8344-4. Epub 2016 Nov 22. J Neurol. 2017. PMID: 27878440
The aim of this study was to assess the cognitive functions of patients with spinocerebellar ataxia type 6 (SCA6). We examined 13 patients with genetically confirmed SCA6 and 13 healthy control subjects matched for age, years of education, global cogni …
The aim of this study was to assess the cognitive functions of patients with spinocerebellar ataxia type 6 (SCA6 …
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
METHODS: Four hundred sixty-two spinocerebellar ataxia patients from the EUROSCA prospective cohort study, suffering from spinocerebellar ataxia type 1, spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, and spinocerebellar ataxia type 6, an …
METHODS: Four hundred sixty-two spinocerebellar ataxia patients from the EUROSCA prospective cohort study, suffering from spinocerebellar at …
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.
Spinocerebellar ataxia type 6 (SCA6) is linked to poly-glutamine (polyQ) within the C terminus (CT) of the pore-forming subunits of P/Q-type Ca(2+) channels (Cav2.1) and is characterized by CT protein aggregates found in cerebellar Purkinje cells (PCs) …
Spinocerebellar ataxia type 6 (SCA6) is linked to poly-glutamine (polyQ) within the C terminus (CT) of the pore- …
Relationship between type 1 metabotropic glutamate receptors and cerebellar ataxia.
Ishibashi K, Miura Y, Ishikawa K, Zhang MR, Toyohara J, Ishiwata K, Ishii K. Ishibashi K, et al. J Neurol. 2016 Nov;263(11):2179-2187. doi: 10.1007/s00415-016-8248-3. Epub 2016 Aug 8. J Neurol. 2016. PMID: 27502082
A partial volume correction was applied to the BP(ND) values. The Scale for the Assessment and Rating of Ataxia (SARA) score were measured. In each patient with SCA19/22 and SCA6, the anterior lobe showed the highest decrease rates in the BP(ND) values, compared with healt …
A partial volume correction was applied to the BP(ND) values. The Scale for the Assessment and Rating of Ataxia (SARA) score were mea …
Language impairment in cerebellar ataxia.
van Gaalen J, de Swart BJ, Oostveen J, Knuijt S, van de Warrenburg BP, Kremer BH. van Gaalen J, et al. Mov Disord. 2014 Sep;29(10):1307-12. doi: 10.1002/mds.25854. Epub 2014 Mar 6. Mov Disord. 2014. PMID: 24604523
BACKGROUND: Several studies have suggested that language impairment can be observed in patients with cerebellar pathology. The aim of this study was to investigate language performance in patients with spinocerebellar ataxia type 6 (SCA6). ...
BACKGROUND: Several studies have suggested that language impairment can be observed in patients with cerebellar pathology. The aim of …
Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6.
Panouillères MTN, Joundi RA, Benitez-Rivero S, Cheeran B, Butler CR, Németh AH, Miall RC, Jenkinson N. Panouillères MTN, et al. Sci Rep. 2017 May 24;7(1):2366. doi: 10.1038/s41598-017-02469-7. Sci Rep. 2017. PMID: 28539669 Free PMC article.
The aim of this study was to identify how sensorimotor adaptation of the upper limb, a cerebellar-dependent process restoring movement accuracy after introduction of a perturbation, is affected at the pre-clinical and clinical stages of spinocerebellar ataxia typ …
The aim of this study was to identify how sensorimotor adaptation of the upper limb, a cerebellar-dependent process restoring movement accur …
Spinocerebellar ataxia type 6 in relation to CAG repeat length.
Kaseda Y, Kawakami H, Matsuyama Z, Kumagai R, Toji M, Komure O, Nishimura M, Izumi Y, Udaka F, Kameyama M, Nishio T, Sunohara N, Kuroda Y, Nakamura S. Kaseda Y, et al. Acta Neurol Scand. 1999 Apr;99(4):209-12. doi: 10.1111/j.1600-0404.1999.tb07348.x. Acta Neurol Scand. 1999. PMID: 10225349
The purpose of the present study was to assess the relationship between clinical characteristics of spinocerebellar ataxia type 6 (SCA6) and CAG repeat length. MATERIALS AND METHODS: We examined clinical symptoms of 54 patients with SCA6. ...RESULTS: T …
The purpose of the present study was to assess the relationship between clinical characteristics of spinocerebellar ataxia …
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 tested patients with spinocerebellar ataxia type 6 (SCA6) and healthy controls for two related motor tasks; one requiring spatio-temporal prediction of dynamic visual stimuli and another one requiring reactive timing only. ...SCA6 patients sh …
We tested patients with spinocerebellar ataxia type 6 (SCA6) and healthy controls for two related motor tasks; o …
65 results