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Our DNA (deoxyribonucleic acid) serves as a genetic blueprint for building and maintaining our tissues. This complex molecule contains the information needed to build proteins, written in a code made up of four chemical bases: adenine (A), thymine (T), cytosine (C) and guanine (G). During transcription, the DNA sequence—stored in Read More…
What is a variant? The human genome contains over 3 billion base pairs– individual “letters” in the DNA code that make the instructions for our cells and bodies to function. A variant or mutation is any change in this code. These changes can be passed down from our biological parents Read More…
Written by Jacen Emerson Edited by Juan Mato Repurposed steroid hormone prevents cell death and motor symptoms in animal models of SCA3 A New Treatment and Biomarker for SCA3? Duarte-Silva and colleagues in Portugal recently investigated a drug called tauroursodeoxycholic acid (TUDCA) in an effort to establish new treatments for Read More…
Our DNA (deoxyribonucleic acid) serves as a genetic blueprint for building and maintaining our tissues. This complex molecule contains the information needed to build proteins, written in a code made up of four chemical bases: adenine (A), thymine (T), cytosine (C) and guanine (G). During transcription, the DNA sequence—stored in Read More…
Written by Carrie Sheeler, PhD Edited by Celeste Suart, PhD Advances in wearable technology for tracking ataxia severity combine coordination changes across different types of movement. How do you know a new treatment is working? This is the key question that clinicians have to answer when developing and testing new therapies. One on one, a patient Read More…
Written by Dr. Pragya Goel Edited by Dr. Lauren Moore Research in mice shows that a specific cell population in the cerebellum maintains balance as we age. Falls due to imbalance are common and dangerous in the elderly, but what exact changes in the brain are responsible for this is Read More…
Snapshot escrito por: Lin (Summer) Dong Editado por: Sharan Srinivasan, MD Traducido por: Ismael Araujo Aliag La arreflexia, proveniente de la palabra griega “a”, que significa ausencia, es una condición médica caracterizada por la ausencia o reducción de los reflejos. Los reflejos son respuestas involuntarias provocadas por estímulos sensoriales que son esenciales para mantener el correcto funcionamiento del cuerpo. Cuando este complejo Read More…
Our DNA (deoxyribonucleic acid) serves as a genetic blueprint for building and maintaining our tissues. This complex molecule contains the information needed to build proteins, written in a code made up of four chemical bases: adenine (A), thymine (T), cytosine (C) and guanine (G). During transcription, the DNA sequence—stored in Read More…
Written by Poojashree Chettiar Edited by Pragya Goel, PhD AI and wearable tech may transform how ataxia is monitored Could everyday devices help track ataxia? Finding treatments for neurological disorders like spinocerebellar ataxias (SCAs) and multiple system atrophy (MSA-C) has been challenging. A major reason is the lack of good Read More…
Written by Jacen Emerson Edited by Hannah Shorrock, PhD Human Imaging data reveals worsening spinal cord damage in several Ataxias that can begin before symptoms start. Why does the spinal cord matter in SCA? Rezende and colleagues recently published the most thorough study of spinal cord damage in Spinocerebellar Ataxias Read More…
