Results 31 to 40 of about 2,429 (159)

Analysis of CAG Repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in Spinocerebellar Ataxia Patients and Distribution of CAG Repeats at the SCA1, SCA2 and SCA6 loci in Nine Ethnic Populations of Eastern India. [PDF]

, 2000
To identify various subtypes of spinocerebellar ataxias (SCAs) among 57 unrelated individuals clinically diagnosed as ataxia patients we analysed the SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci for expansion of CAG repeats.
Bhattacharyya, Nitai P, Chattopadhyay, Biswanath, Gangopadhaya, Prasanta K, Mukherjee, Subhas C., Basu, Priyadarshi, Majumder, Partha P, Majumder, Partha P., Bhattacharyya, Nitai P., Gangopadhaya, Prasanta K., Das, Shyamal K., Das, Shyamal K, Mukherjee, Subhas C, Sinha, Krishna K, Sinha, Krishna K., Roychoudhury, Susanta   +14 more
core   +1 more source

Polyglutamine length-dependent toxicity from α1ACT in Drosophila models of spinocerebellar ataxia type 6

Biology Open, 2016
Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease that results from abnormal expansion of a polyglutamine (polyQ) repeat. SCA6 is caused by CAG triplet repeat expansion in the gene CACNA1A, resulting in a polyQ tract of 19-33 in ...
Wei-Ling Tsou, Sultan H. Qiblawi, Ryan R. Hosking, Christopher M. Gomez, Sokol V. Todi   +4 more
doaj   +1 more source

Evolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6

Annals of Clinical and Translational Neurology, 2022
ObjectiveThe aim was to study the evolution of disability in spinocerebellar ataxias (SCAs) type 1, 2, 3, and 6 (SCA1, 2, 3, 6).MethodsWe analyzed data of two longitudinal cohorts (RISCA, EUROSCA) which recruited ataxic and non‐ataxic SCA1, SCA2, SCA3 ...
Heike Jacobi, Tamara Schaprian, Jan Beyersmann, Sophie Tezenas du Montcel, Matthias Schmid, Thomas Klockgether, the EUROSCA and RISCA Study Groups   +6 more
doaj   +1 more source

Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs

Cell Reports, 2016
Spinocerebellar ataxia type 6 (SCA6) is a dominantly inherited neurodegenerative disease characterized by loss of Purkinje cells in the cerebellum. SCA6 is caused by CAG trinucleotide repeat expansion in CACNA1A, which encodes Cav2.1, α1A subunit of P/Q ...
Yoshihito Ishida, Hideshi Kawakami, Hiroyuki Kitajima, Ayaka Nishiyama, Yoshiki Sasai, Haruhisa Inoue, Keiko Muguruma   +6 more
doaj   +1 more source

Demographic and clinical data of the patients with cerebellar subtype multiple system atrophy (MSA-C), spinocerebellar ataxia type 3 (SCA3), and type 6 (SCA6) and controls.

, 2022
Demographic and clinical data of the patients with cerebellar subtype multiple system atrophy (MSA-C), spinocerebellar ataxia type 3 (SCA3), and type 6 (SCA6) and controls.
Hiroki Mukai (1719136), Jiaqi Wang (369548), Kyosuke Koide (11023488), Atsuhiko Sugiyama (4567720), Friedemann Paul (25657), Shoichi Ito (7332053), Hajime Yokota (90578), Graham Cooper (6559295), Satoshi Kuwabara (611904), Alexander U. Brandt (8710887), Kenji Ohira (11959613), Shigeki Hirano (500064), Carsten Finke (351337)   +12 more
core   +1 more source

Association between proton magnetic resonance spectroscopy measurements and CAG repeat number in patients with spinocerebellar ataxias 2, 3, or 6. [PDF]

PLoS ONE, 2012
The aim of this study was to correlate magnetic resonance spectroscopy (MRS) measurements, including that for the N-acetyl aspartate (NAA)/creatine (Cr) ratio in the vermis (denoted V-NAA), right cerebellar hemisphere (R-NAA), and left (L-NAA) cerebellar
Po-Shan Wang, Hung-Chieh Chen, Hsiu-Mei Wu, Jiing-Feng Lirng, Yu-Te Wu, Bing-Wen Soong   +5 more
doaj   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6

Scientific Reports, 2017
Early detection of the behavioural deficits of neurodegenerative diseases may help to describe the pathogenesis of such diseases and establish important biomarkers of disease progression.
Muriel T. N. Panouillères, Raed A. Joundi, Sonia Benitez-Rivero, Binith Cheeran, Christopher R. Butler, Andrea H. Németh, R. Chris Miall, Ned Jenkinson   +7 more
doaj   +1 more source

Identification of main fine flavour components in two genotypes of the cocoa tree (Theobroma cacao L.)

Journal of Applied Botany and Food Quality, 2013
Cocoa seeds are the key raw material in chocolate manufacturing. Traders separate them into bulk and fine or flavour cocoa. The latter is characterized by the presence of special aroma notes (e.g. fruity). In contrast to chocolate aroma that derives from
Daniel Kadow, Joerg Bohlmann, Wilberth Phillips, Reinhard Lieberei   +3 more
doaj   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, Volume 100, Issue 4, Page 850-866, October 2026.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source