Results 21 to 30 of about 71,064 (224)

Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function

Arquivos de Neuro-Psiquiatria, 2013
OBJECTIVES: To assess balance and ability to function in patients with spinocerebellar ataxia. METHODS: A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3 ...
Carolina Yuri P. Aizawa, Jose Luiz Pedroso, Pedro Braga-Neto, Marilia Rezende Callegari, Orlando Graziani Povoas Barsottini   +4 more
doaj   +1 more source

Spinocerebellar ataxia: an update [PDF]

Journal of Neurology, 2018
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritance. We aim to provide an update on the recent clinical and scientific progresses in SCA where numerous novel genes have been identified with next-generation sequencing techniques. The main disease mechanisms of these SCAs include
Sullivan, R, Yau, WY, O'Connor, E, Houlden, H   +3 more
openaire   +3 more sources

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 [PDF]

, 2008
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (SCA3, MJD1) protein.
X. Chen, Bezprozvanny, I, Nelson, O, Hammer, R, Tu, H, Nukina, N, O. Nelson, N. Nukina, Chen, X, Tang, TS, T.-S. Tang, Pook, M, H. Tu, R. Hammer, I. Bezprozvanny, M. Pook   +15 more
core   +1 more source

A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

Journal of Veterinary Internal Medicine, 2014
Background Juvenile‐onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years.
D. Gilliam, D.P. O'Brien, J.R. Coates, G.S. Johnson, G.C. Johnson, T. Mhlanga‐Mutangadura, L. Hansen, J.F. Taylor, R.D. Schnabel   +8 more
doaj   +1 more source

Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs

Molecular Therapy: Nucleic Acids, 2017
Spinocerebellar ataxia type 36 is a late-onset, slowly progressive cerebellar syndrome with motor neuron degeneration that is caused by expansions of a hexanucleotide repeat (GGCCTG) in the noncoding region of NOP56 gene, with a histopathological feature
Kosuke Matsuzono, Keiko Imamura, Nagahisa Murakami, Kayoko Tsukita, Takuya Yamamoto, Yuishin Izumi, Ryuji Kaji, Yasuyuki Ohta, Toru Yamashita, Koji Abe, Haruhisa Inoue   +10 more
doaj   +1 more source

A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III

Journal of Aziz Fatimah Medical and Dental College, 2023
Machado-Joseph Disease, also known as Spinocerebellar Ataxia Type III, was initially described in patients of Azorean heritage as a neurodegenerative disease but is now known to occur globally.
Muhammad Sohail Ajmal Ghoauri , Nauman Ismat Butt, Dur-e-Sabeeh, Muhammad Bilal Rasheed, Muhammad Umair Javed, Fahmina Ashfaq   +5 more
doaj   +1 more source

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 [PDF]

, 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

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

Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant

Journal of Veterinary Internal Medicine, 2023
Background In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration. Hypothesis/Objectives Describe the clinical, diagnostic, pathological and genetic features of spinocerebellar degeneration in the Bouvier des Ardennes breed.
Kimberley Stee, Mario Van Poucke, Martí Pumarola, Lise Geerinckx, Iris Van Soens, Sofie F. M. Bhatti, Luc Peelman, Ine Cornelis   +7 more
doaj   +1 more source

The Spinocerebellar Ataxias [PDF]

Journal of Neuro-Ophthalmology, 2009
Slowly progressive ataxia accompanied by cerebellar degeneration is often genetic in origin. The past 15 years have witnessed a revolution in our understanding of the causes of dominantly inherited ataxias, now known as the spinocerebellar ataxias (SCAs). Nearly 30 distinct genetic causes of SCA are known, numbered chronologically in order of discovery.
openaire   +2 more sources