Results 21 to 30 of about 33,006 (235)

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

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

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

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

A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI [PDF]

, 2008
A Japanese woman developed gait disturbances at 25 years of age, and subsequently underwent gradual changes in her personality. By the age of 42, she showed clear signs of dementia and cerebellar ataxia, and displayed behavioral abnormalities, choreic ...
Suzuki, Chieko, Tomiyama, Masahiko, Jackson, Mandy, Ikeda, Yoshio, Yamamoto-Watanabe, Yukiko, Watanabe, Mitsunori, Kawarabayashi, Takeshi, Shoji, Mikio, Wakasaya, Yasuhito, Monai, Natsuki, Kimura, Tamaki, Miki, Yasuo, Matsubara, Etsuro, Seino, Yusuke   +13 more
core   +1 more source

Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content [PDF]

, 2011
Dynamic expansions of toxic polyglutamine (polyQ)-encoding CAG repeats in ubiquitously expressed, but otherwise unrelated, genes cause a number of late-onset progressive neurodegenerative disorders, including Huntington disease and the spinocerebellar ...
Darren G. Monckton, Monckton, Darren G,, Monckton, D.G., Colm E. Nestor, Nestor, C.E., Nestor, Colm,, Darren G Monckton, Colm E Nestor   +7 more
core   +1 more source

Epilepsy in spinocerebellar ataxia type 8: a case report

Journal of Medical Case Reports, 2019
Background Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities.
Arun Swaminathan
doaj   +1 more source