Results 21 to 30 of about 2,429 (159)

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: Founder effect or predisposing chromosome?

Spinocerebellar ataxia type 6 (SCA6) is a common cause of dominantly inherited ataxia due to an expansion of the CAG repeat in the CACNA1A gene. Affected individuals from the same population share a common haplotype, raising the possibility that most ...
Soong B, Lythgow K, Chinnery P, Kawakami H, Morino H, Maruyama H, Takiyama Y, Jardim L, Craig K, Saraiva-Pereira M   +9 more
core   +5 more sources

study: generation of a non-invasive patient-derived neurodegenerative model for spinocerebellar ataxia 6 [PDF]

Organoid
Background Spinocerebellar ataxia (SCA) is a rare neurodegenerative disorder defined by genetic mutations that cause gait disturbances and impaired motor coordination.
Youngsun Lee, Mi-Ok Lee
doaj   +1 more source

Visual Suppression is Impaired in Spinocerebellar Ataxia Type 6 but Preserved in Benign Paroxysmal Positional Vertigo

Diagnostics, 2012
Positional vertigo is a common neurologic emergency and mostly the etiology is peripheral. However, central diseases may mimic peripheral positional vertigo at their initial presentation.
Masahiko Kishi, Ryuji Sakakibara, Tomoe Yoshida, Masahiko Yamamoto, Mitsuya Suzuki, Manabu Kataoka, Yohei Tsuyusaki, Akihiko Tateno, Fuyuki Tateno   +8 more
doaj   +1 more source

Clovamide, a Hydroxycinnamic Acid Amide, Is a Resistance Factor Against Phytophthora spp. in Theobroma cacao

Frontiers in Plant Science, 2020
The hydroxycinnamic acid amides (HCAAs) are a diverse group of plant-specialized phenylpropanoid metabolites distributed widely in the plant kingdom and are known to be involved in tolerance to abiotic and biotic stress. The HCAA clovamide is reported in
Benjamin J. Knollenberg, Benjamin J. Knollenberg, Guo-Xing Li, Joshua D. Lambert, Siela N. Maximova, Siela N. Maximova, Mark J. Guiltinan, Mark J. Guiltinan   +7 more
doaj   +1 more source

Construction of induced pluripotent stem cell line (ZZUi0017-A) from the fibroblast cells of a female patient with CACNA1A mutation by unintegrated reprogramming approach

Stem Cell Research, 2020
Ataxia is a common clinical symptom of neurodegenerative diseases, such as spinocerebellar ataxia, Parkinson’s disease. Spinocerebellar ataxia includes more than 40 types.
Jing Yang, Han Liu, Huifang Sun, Zhuoya Wang, Rui Zhang, Yutao Liu, Qi Zhang, Shoutao Zhang, Jin Zhang, Changhe Shi, Yanlin Wang, Yuming Xu   +11 more
doaj   +1 more source

Impaired Spatio-Temporal Predictive Motor Timing Associated with Spinocerebellar Ataxia Type 6. [PDF]

PLoS ONE, 2016
Many daily life activities demand precise integration of spatial and temporal information of sensory inputs followed by appropriate motor actions. This type of integration is carried out in part by the cerebellum, which has been postulated to play a ...
Robin Broersen, Yoshiyuki Onuki, Abdel R Abdelgabar, Cullen B Owens, Samuel Picard, Jessica Willems, Henk-Jan Boele, Valeria Gazzola, Ysbrand D Van der Werf, Chris I De Zeeuw   +9 more
doaj   +1 more source

Differences between spinocerebellar ataxias and multiple system atrophy-cerebellar type on proton magnetic resonance spectroscopy. [PDF]

PLoS ONE, 2012
PURPOSE: A broad spectrum of diseases can manifest cerebellar ataxia. In this study, we investigated whether proton magnetic resonance spectroscopy (MRS) may help differentiate spinocerebellar ataxias (SCA) from multiple systemic atrophy- cerebellar type
Jiing-Feng Lirng, Po-Shan Wang, Hung-Chieh Chen, Bing-Wen Soong, Wan Yuo Guo, Hsiu-Mei Wu, Cheng-Yen Chang   +6 more
doaj   +1 more source

Spinocerebellar ataxia type 6 in eastern India: Some new observations

Annals of Indian Academy of Neurology, 2016
Introduction: Spinocerebellar ataxias (SCAs) are hereditary, autosomal dominant progressive neurodegenerative disorders showing clinical and genetic heterogeneity. They are usually manifested clinically in the third to fifth decade of life although there
Kalyan B Bhattacharyya, Debabrata Pulai, Deb Shankar Guin, Goutam Ganguly, Anindita Joardar, Sarnava Roy, Saurabh Rai, Atanu Biswas, Alok Pandit, Arijit Roy, Asit Kumar Senapati   +10 more
doaj   +1 more source

Disease progression of spinocerebellar ataxia types 1, 2, 3 and 6 before and after ataxia onset

Annals of Clinical and Translational Neurology, 2023
Objective Our aim was to study the evolution of ataxia and neurological symptoms before and after ataxia onset in the most common spinocerebellar ataxias (SCAs), SCA1, SCA2, SCA3 and SCA6.
Heike Jacobi, Tamara Schaprian, Tanja Schmitz‐Hübsch, Matthias Schmid, Thomas Klockgether, the EUROSCA and RISCA Study Groups   +5 more
doaj   +1 more source

New Nonsense Variant c.2983G>T; p.Glu995* in the Gene Causes Progressive Autosomal Dominant Ataxia [PDF]

Journal of Movement Disorders, 2021
The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA).
Yannic Saathoff, Saskia Biskup, Claudia Funke, Christian Roth   +3 more
doaj   +1 more source