Results 81 to 90 of about 2,429 (159)

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease [PDF]

, 2015
Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD).
Wang, Lisa, Deutschlander, Angela, Lynch, Timothy, Lichtner, Peter, Chung, Sun J., Goldwurm, Stefano, Mok, Vincent, Aasly, Jan O., Lang, Anthony E., Carr, Jonathan, Hadjigeorgiou, Georgios M., Bozi, Maria, Klein, Christine, Mellick, George D., Garraux, Gaetan, Lin, Juei-Jueng, Farrer, Matthew J., Opala, Grzegorz, Crosiers, David, Morrison, Karen E., Eckstein, Gertrud, Lesage, Suzanne, Brice, Alexis, Jeon, Beom, Clarke, Carl, Hicks, Andrew A., Kim, Yun J., Hattori, Nobutaka, Annesi, Grazia, Jasinska-Myga, Barbara, Bardien, Soraya   +30 more
core   +1 more source

Validity of a wearable accelerometer to quantify gait in spinocerebellar ataxia type 6 [PDF]

, 2016
Biomarkers are required to track disease progression and measure the effectiveness of interventions for people with spinocerebellar ataxia type-6 (SCA6).
Hickey, A., Alcock, L., Del Din, Silvia, Galna, Brook, Godfrey, Alan, Alcock, Lisa, Godfrey, A., Galna, B., Rochester, Lynn, Gunn, E., Rochester, L., Gunn, Eleanor, Del Din, S., Hickey, Aodhán   +13 more
core   +1 more source

Spinocerebellar ataxia type 6 in Brazil Ataxia espinocerebelar tipo 6 no Brasil

Arquivos de Neuro-Psiquiatria, 2008
Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13.
Hélio A.G. Teive, Renato Puppi Munhoz, Salmo Raskin, Lineu César Werneck   +3 more
doaj   +1 more source

Ablation of TrkB from Enkephalinergic Precursor-Derived Cerebellar Granule Cells Generates Ataxia

Biology
In ataxia disorders, motor incoordination (ataxia) is primarily linked to the dysfunction and degeneration of cerebellar Purkinje cells (PCs). In spinocerebellar ataxia 6 (SCA6), for example, decreased BDNF–TrkB signalling appears to contribute to PC ...
Elena Eliseeva, Mohd Yaseen Malik, Liliana Minichiello   +2 more
doaj   +1 more source

Oral Presentation

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families.

, 2001
Item does not contain fulltextBACKGROUND: Autosomal dominant cerebellar ataxias (ADCAs), or spinocerebellar ataxias (SCAs), are a heterogeneous group of neurodegenerative disorders.
Sinke, R J, van Hilten, B J, Ippel, E F, Kremer, H P, Knoers, N V, Amstel, H.K. van, van Amstel, H K, Ippel, E.F., Diepstraten, C.M., Wokke, J.H.J., Diepstraten, C M, Hilten, B.J. van, Knoers, N.V.A.M., Beemer, F A, Sinke, R.J., Beemer, F.A., Kremer, H.P.H., Wokke, J H   +17 more
core   +1 more source

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

, 1998
peer reviewedOBJECTIVE: Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar ataxia (ADCA) of which the mutation causing the disease has recently been characterised as an expanded CAG trinucleotide repeat in the gene coding for the ...
Riess, O., Przuntek, H., Amoiridis, G., Epplen, J. T., Schols, L., KRÜGER, Rejko   +5 more
core   +1 more source

Análisis molecular de las ataxias espinocerebelosas para los genes 1,2,3,6,7,8 y FRDA en la población colombiana

Acta Biológica Colombiana, 2001
Las ataxias son un grupo de enfermedades neurodegenerativas que afectan el cerebelo, el tallo y los tractos espinocerebelosos. 10 genes para las ataxias espinocerebelosas (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA13, y DRPLA) han sido ...
M. L. Gómez, C. Durán, O. L. Pedraza, J. C. Prieto   +3 more
doaj  

Polysomnography findings in spinocerebellar ataxia type 6

, 2016
Spinocerebellar ataxia type 6 (SCA6) is usually described as a pure ataxia syndrome. However, SCA6 patients may have sleep complaints. In this paper, sleep disorders were investigated in patients with SCA6. Twelve SCA6 patients and 12 subjects matched by
Coelho, Fernanda Monteiro [UNIFESP], Barsottini, Orlando Graziani Povoas [UNIFESP], Pedroso, José Luiz [UNIFESP], Truksinas, Eveli [UNIFESP], Rueda, Adriana Dourado [UNIFESP], Prado, Gilmar Fernandes do [UNIFESP]   +5 more
core   +1 more source

Clinical and genetic correlation of spinocerebellar ataxia patients: Insights from a tertiary care investigation

Annals of Movement Disorders
INTRODUCTION: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by progressive cerebellar ataxia and various noncerebellar manifestations.
Bashir Sanie, Atif Kawoosa, Ibrar Ahmed Khan, Sheikh Hilal, Zubair Ul Nazir, Adnan Firdaus Raina   +5 more
doaj   +1 more source