English Archives

Two or more birds with one stone: Designing a single therapeutic strategy to treat multiple types of spinocerebellar ataxia

January 3, 2020

Written by Dr. David Bushart Edited by Dr. Hayley McLoughlin A newly-proposed treatment strategy might be effective against several forms of spinocerebellar ataxia and other CAG repeat-associated disorders Upon receiving an initial diagnosis of spinocerebellar ataxia (SCA), a swarm of questions might enter a patient’s mind. Many of these questions Read More…

Eyes: Windows to peek at brain function in spinocerebellar ataxias

December 20, 2019

Written by Dr. Sriram Jayabal Edited by Dr. David Bushart Eye movement deficits occur ubiquitously in spinocerebellar ataxias, even at early disease states, highlighting their clinical importance. Imagine the different motor movements that you make in your everyday life. Many people think of actions that we perform using our hands Read More…

Snapshot: What Does Success Mean in Clinical Trials with Antisense Oligonucleotides (ASO)?

December 13, 2019

Research is rapidly moving from the bench to the bedside to treat neurological inherited disorders of all types, including spinocerebellar ataxias. SCAsource has previously gone over the science behind ASO therapy. These diseases share a common theory that the DNA mutation leads to the formation of an altered protein that is Read More…

New Strategy for Reducing Ataxin-1 Levels Shows Promise

December 6, 2019

Written by Carrie A. Sheeler Edited by Dr. Ronald A.M. Buijsen RNAi reduces levels of disease-causing Ataxin-1 in SCA1 model mice, easing symptoms of disease when injected both before and after symptom onset. Lowering the amount of the disease-causing mutant Ataxin-1 protein in affected cells and tissues improves symptoms of Read More…

Snapshot: What is recessive ataxia?

November 29, 2019

What is a recessive disorder? A recessive disorder is one that has a specific disease mechanism. For a recessive disorder to occur, both copies of the causative gene must be mutated for a patient to show symptoms. Ataxias that follow this disease mechanism are known as recessive ataxia. However, having Read More…

Huntingtin: a new player in the DNA repair arsenal

November 22, 2019

Written by Dr. Ambika Tewari Edited by Dr. Mónica Bañez-Coronel Mutations in the Huntingtin protein impair DNA repair causing significant DNA damage and altered gene expression Our genome houses the entirety of our genetic material which contains the instructions for making the proteins that are essential for all processes in Read More…

Snapshot: What is Magnetic Resonance Imaging (MRI)?

November 15, 2019

What is it? Magnetic resonance imaging (MRI) is a type of technology used to take detailed pictures of the body. It is commonly used to detect abnormalities in the body, diagnose diseases, and to regularly monitor patients who are undergoing treatments. It can generate three-dimensional images of non-bony tissues, such Read More…

Mitochondrially Stressed

November 8, 2019

Written by Dr. Judit M. Pérez Ortiz Edited by Dr. Brenda Toscano Márquez Scientists describe how SCA2 oxidative stress can affect mitochondrial function, and potentially how to fix it Mitochondrial Stress We all have experienced stress. When cramming for an exam last minute, or getting ready for a job interview, Read More…

Snapshot: What is RNAi?

November 1, 2019

RNA interference, or RNAi, is a natural biological process that inhibits the expression of a specific gene. In medicine, targeted RNAi therapies can be used to silence the expression of a disease-causing gene. To understand RNAi, you first have to understand RNA. An overview of RNA is the messager between Read More…

Zapping the brain to help ataxia

October 25, 2019

Written by Dr. Judit M. Perez Ortiz Edited by Dr. Sriram Jayabal In a new study, scientists have found that “zapping” the brain with an electromagnetic wand may someday help patients with spinocerebellar ataxia. In an era of ever-evolving technological advances used for personal entertainment and space travel, medical scientists Read More…