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National Ataxia Foundation

2023 AAC

SCA1

VEGF-mimicking nanoparticles improve SCA1 disease phenotype in mice

Written by Dr. Chandrakanth Edamakanti Edited by Dr. David Bushart VEGF nanoparticles offer a new avenue for developing treatments for SCA1 and other neurodegenerative disorders Spinocerebellar ataxia type 1 (SCA1) is a neurogenerative disorder with symptoms that typically begin in the third or fourth decade of life. The disease is Read More…

A Combined Approach to Treatment: Targeting PAKs in SCA1

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…

Mitochondrial Dysfunction Found in SCA1 Purkinje Cells

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…

Approaching the age of clinical therapy for spinocerebellar ataxia type 1

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…

Spinocerebellar Ataxia Type 1 is Caused by a Trinucleotide DNA Repeat

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…

DNA Damage Repair: A New SCA Disease Paradigm

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…

Molecular Mechanism behind Purkinje Cell Toxicity in SCA1 Uncovered

Written by Dr. Chandrakanth Edamakanti   Edited by Dr. Hayley McLoughlin Recent study decodes the protein signature of toxic Purkinje cells, finding that Purkinje cell mTORC1 signaling is impaired in SCA1. Spinocerebellar ataxia type 1 (SCA1) is a late onset cerebellar neurodegenerative disorder caused by a mutation (in this case, an Read More…

Protein kinase C to the Rescue in Spinocerebellar Ataxias

Written By Dr. Marija Cvetanovic   Edited by Dr. Sriram Jayabal Protein kinase C: one protein that may help to protect against cerebellar neuronal dysfunction & death in spinocerebellar ataxias Among the estimated 86 billion brain cells (known as “neurons”) in the human body (Azevedo et al., 2009), there is a Read More…

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