Results 31 to 40 of about 28,732 (186)

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

Molecular Genetics and Metabolism Reports, 2018
Primary coenzyme Q10 deficiency-7 is caused by homozygous or compound heterozygous mutations in the COQ4 gene. Until now 12 patients have been reported, most presenting with a lethal infantile phenotype with encephalopathy, epilepsy and cardiomyopathy ...
Annet M. Bosch, Erik-Jan Kamsteeg, Richard J. Rodenburg, Arend W. van Deutekom, Dennis R. Buis, Marc Engelen, Jan-Maarten Cobben   +6 more
doaj   +1 more source

Novel mutation in exon11 of PRKCG (SCA14): A case report

Frontiers in Genetics, 2023
Introduction:PRKCG mutations have been implicated in the pathogenesis of spinocerebellar ataxia type 14 (SCA14), which is a rare autosomal dominant disease marked by cerebellar degeneration, dysarthria, and nystagmus.
Rong Sun, Xiang Tang, Xueqin Cao, Xinyu Shao, Hong Sun   +4 more
doaj   +1 more source

Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo‐Electron Tomography

Advanced Science, EarlyView.
Correlative cryo‐electron tomography in primary cortical neurons and NIID mouse brain tissue reveals that polyG inclusions are interconnected ribbon‐like assemblies rather than canonical amyloid fibrils. Multiple compartment‐specific ribbon states show distinct 26S proteasome accessibility, while cytoplasmic ribbons contact and deform ER‐like ...
Yunwen Qian, Yalan Wan, Chen Chen, Xiaoyu Zheng, Wenjing Du, Junhan Yang, Zhihao Quan, Biyu Yang, Jiaxi Yu, Jie Zheng, Zhaoxia Wang, Jianwen Deng, Qiang Guo   +12 more
wiley   +1 more source

Epidemiology of Spinocerebellar Ataxias in Europe

The Cerebellum, 2023
AbstractSpinocerebellar ataxias (SCAs) are a heterogenous group of rare neurodegenerative conditions sharing an autosomal dominant pattern of inheritance. More than 40 SCAs have been genetically determined. However, a systematic review of SCA epidemiology in Europe is still missing.
De Mattei, Filippo, Ferrandes, Fabio, Gallone, Salvatore, Canosa, Antonio, Calvo, Andrea, Chiò, Adriano, Vasta, Rosario   +6 more
openaire   +3 more sources

Glycine Transporter Blockade Ameliorates Motor Ataxia in a Mouse Model of Spinocerebellar Atrophy

Journal of Pharmacological Sciences, 2009
Ataxic movement, the common major symptom of spinocerebellar atrophy, has been considered to involve impaired glutamatergic excitatory neurotransmission in the cerebellum.
Mitsuo Tanabe, Tomoharu Nakano, Motoko Honda, Hideki Ono   +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, EarlyView.
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

Recurrent postoperative delirium in spinocerebellar ataxia type 2: a case report

Journal of Medical Case Reports, 2019
Background Postoperative delirium is a relatively uncommon condition in middle aged patients, but very widespread in patients with psychiatric and neurological diseases undergoing general anesthesia.
Laura Levantesi, Germano De Cosmo, Giandomenico Logroscino, Michela Saracco   +3 more
doaj   +1 more source

Motor decline in clinically presymptomatic spinocerebellar ataxia type 2 gene carriers. [PDF]

PLoS ONE, 2009
BACKGROUND: Motor deficits are a critical component of the clinical characteristics of patients with spinocerebellar ataxia type 2. However, there is no current information on the preclinical manifestation of those motor deficits in presymptomatic gene ...
Luis Velázquez-Perez, Rosalinda Díaz, Ruth Pérez-González, Nalia Canales, Roberto Rodríguez-Labrada, Jacquelín Medrano, Gilberto Sánchez, Luis Almaguer-Mederos, Cira Torres, Juan Fernandez-Ruiz   +9 more
doaj   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source