Results 71 to 80 of about 27,164 (223)

β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees:Protein complex critical for sodium channel activity is impaired by SCA5-associated mutations

, 2014
Beta III spectrin is present throughout the elaborate dendritic tree of cerebellar Purkinje cells and is required for normal neuronal morphology and cell survival.
Perkins, Emma M., Clarkson, Yvonne L., Lyndon, Alastair R., Skehel, Paul A., Jackson, Mandy, Cairncross, Callum J., Lyndon, Alastair R.; id_orcid   +6 more
core   +1 more source

Assessment of Bone Mineral Density of Patients with Spinocerebellar Ataxia Type 3 [PDF]

Journal of Movement Disorders, 2019
Objective Machado-Joseph disease (MJD) is a spinocerebellar ataxia, and osteoporosis is a multifactor disease that may affect patients with neurologic conditions. The frequency of osteoporosis among MJD patients, however, has not been studied.
Aline MS Farias, Simone Appenzeller, Marcondes C França, Alberto RM Martinez, Elba E Etchebehere, Thiago F Souza, Allan O Santos   +6 more
doaj   +1 more source

Establishment of human-induced pluripotent stem cell GZHMCi0011-A from peripheral blood mononuclear cells from a volunteer with 14/63 CAG repeats of the ATXN3 mutation

Stem Cell Research, 2023
Spinocerebellar ataxia type 3 (SCA3) is a genetic degeneration disease of the nervous system with ataxia as the main clinical manifestation, and the most frequent subtype of SCA3 is known to be caused by CAG repeat expansions of more than 55 units in ...
Guan Hongmei, Sun Xiaofang, Song Bing
doaj   +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

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report

BMC Neurology
Background Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases.
Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Pauline Planté-Bordeneuve, Eugénie Mutez, Vincent Huin   +5 more
doaj   +1 more source

Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients

Arquivos de Neuro-Psiquiatria, 2014
Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the ...
Adriana Moro, Renato P. Munhoz, Walter O. Arruda, Salmo Raskin, Mariana Moscovich, Hélio A.G. Teive   +5 more
doaj   +1 more source

Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3

Molecular Genetics & Genomic Medicine, 2020
Background Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare.
Quan-Fu Li, Hao‐Ling Cheng, Lu Yang, Yin Ma, Jing‐Jing Zhao, Yi Dong, Zhi‐Ying Wu   +6 more
doaj   +1 more source

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers, Martin E. Johansson, Karen Huisman‐Venrooij, Ivan Toni, Vivian Weerdesteyn, Bart P.C. van de Warrenburg   +5 more
wiley   +1 more source

Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin

, 2009
The clinical effect of the GABAergic drug gabapentin was evaluated in 11 patients with spinocerebellar ataxia type 6 (SCA6). The total period of gabapentin treatment was 4 weeks, and outcome measures were determined with the International Cooperative ...
Katsuya Nakamura, Morita, Hiroshi, Ikeda, Shu-ichi, Kunihiro Yoshida, Hiroshi Morita, Nakamura, Katsuya, Yoshida, Kunihiro, Daigo Miyazaki, Shu-ichi Ikeda, Miyazaki, Daigo   +9 more
core   +1 more source

A Case of Genetically Confirmed Spinocerebellar Ataxia Type 8 [PDF]

, 2008
Spinocerebellar ataxia type 8 patients typically have a slowly progressive, adult-onset ataxia. SCA8 is characterized by relatively pure cerebellar ataxia, which is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21.
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core   +1 more source