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Written by Carrie A. Sheeler Edited by Dr. Marija Cvetanovic Group 1 p21-associated kinases (PAKs) present a new avenue for SCA1 research. Spinocerebellar ataxia type 1 (SCA1) is caused by a specific mutation in the Ataxin1 gene, which causes the protein that’s made from that gene (also called Ataxin1) to Read More…
Written by Siddharth Nath Edited by Dr. Ray Truant Spinocerebellar ataxia type 7 (SCA7) is unique amongst the SCAs in that it involves an organ besides the brain – the eye. Rather than problems with movement, the first hint that something may be wrong for SCA7 patients is often a subtle change Read More…
Written by Dr. Terri M Driessen Edited by Dr. David Bushart Mitochondrial dysfunction and loss of mitochondrial DNA is identified in an SCA1 mouse model. Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder that causes cell death in certain parts of the brain. The brain regions affected play important Read More…
Written by Jorge Diogo Da Silva Edited by Dr. Maria do Carmo Costa Potential drug targets and biomarkers of SCA3/MJD revealed Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is a debilitating neurodegenerative disease that usually begins in mid-life. The mutation that causes SCA3 leads to the Read More…
Written by Dr. Sriram Jayabal Edited by Dr. Brenda Toscano-Marquez Scientists uncover SACS, a gene containing the largest exon identified in vertebrates, which leads to ARSACS when mutated. What is your morning routine? Coffee first, right? Now, try to think of all the diverse movements you need to make to Read More…
Written by Dr. Marija Cvetanovic Edited by Dr. Maxime W. Rousseaux New research (published Nov. 2018) reveals promising potential genetic therapy for SCA1. A research team comprised of scientists from academia and industry have tested a new treatment for Spinocerebellar ataxia type 1 (SCA1), bringing disease-modifying therapy one step closer Read More…
Written by Hillary Handler Edited by Dr. David Bushart How researchers found that SCA1 is caused by an expanded, repetitive DNA sequence – a discovery that has allowed for accurate SCA1 diagnosis and more focused research strategies Before the true genetic basis of Spinocerebellar Ataxia Type 1 (SCA1) was discovered, Read More…
Written by Larissa Nitschke Edited by Dr. Gülin Öz Researchers in the Netherlands uncover a new way to treat SCA3 Upon receiving a conclusive diagnosis of Spinocerebellar Ataxia (SCA), hundreds of questions can appear in a patient’s mind: What is Spinocerebellar Ataxia? Why am I affected? How will my symptoms Read More…
Written by Anna Cook and Dr. Alanna Watt Edited by Dr. Vitaliy V. Bondar Scientists uncover a promising therapeutic avenue to treat spinocerebellar ataxia type 2 (SCA2). Spinocerebellar ataxia type 2 (SCA2) is a progressive ataxia caused by a mutation in the ATXN2 gene. This mutation causes a tract of the amino Read More…
Written by Dr. Laura Bowie Edited by Dr. Hayley McLoughlin Researchers use genetics to find new pathways that impact the onset of polyglutamine disease symptoms The cells of the human body are complex little machines, specifically evolved to fulfill certain roles. Brain cells, or neurons, act differently from skin cells, which, in Read More…
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