Areflexia, from the Greek word “a”, meaning absence, is a medical condition characterized by the absence or reduction of reflexes. Reflexes are involuntary response triggered by sensory stimuli that are essential for maintaining proper bodily function. When this complex system fails, it shows as areflexia, which causes a variety of Read More…
Written by Marija Cvetanovic, PhDEdited by Spyros Petrakis, PhD Researchers from Yale provide evidence that glial cells, in particular Bergmann glia in the cerebellum, may contribute to disease pathogenesis in SCA1. The human brain contains approximately 170 billion cells. However, approximately half of them (86 billion cells) are not neurons. Read More…
Have you ever wondered what part of your nervous system is helping move the muscles of your body? Or your head? An important part of our central nervous system called the pyramidal tract is responsible for voluntary movements made by our body. The pyramidal tract is made up of two Read More…
Written by Celeste Suart, PhDEdited by Eder Xhako A survey conducted by French researchers examines how people impacted by Spinocerebellar Ataxia view different reproductive health options and sharing information with family members about genetic conditions. Starting a family is a big decision. There are a lot of things to consider Read More…
Written by Alexandra Putka Edited by Dr Hannah K Shorrock Scientists characterize SCA1, 2, 3, & 6 disease progression, finding that symptoms change most rapidly in the first 10 years of the disease. Designing clinical trials for rare diseases such as spinocerebellar ataxias (SCAs) requires us to know the timeline Read More…
Written by Juan MatoEdited by Hayley McLoughlin, PhD German research team uses specialized imaging technology to measure neuropathy in SCA3 patients. The Unexplored Depths of Peripheral Neuropathy in SCA3 Spinocerebellar Ataxia Type 3 (SCA3) is an inherited neurodegenerative disease that affects balance, coordination, speech, and overall mobility. However, did you Read More…
Written by Kaitlyn Neuman Edited by Sarah Donofrio Lessons learned from Friedreich’s Ataxia patients and families: Gene therapy, trial participation, and managing expectations. What is Friedreich’s Ataxia? Friedreich’s Ataxia (FA) is a rare genetic childhood condition with a variety of symptoms, including trouble with balance, coordination, and a progressive loss Read More…
A person’s voice is a unique and identifying trait. From one aisle in the grocery store, a familiar friend can be recognized by the sound of their voice. Your friends or family can tell if you’re near just by hearing your laugh. People sound different because of the shape and Read More…
Have you ever thought about why doctors tell us to eat protein-rich food? Why eating proteins is so important for our health and wellbeing? Well, it is because of what they consist of and how important proteins are to maintain our body functions under control. Amino acids are organic chemicals Read More…
Written by Tala Ortiz Edited by Dr. Larissa Nitschke Repeat-associated non-AUG (RAN) translation in CAG repeat expansion diseases is toxic to cells and causes them to die. The Jain group found that RAN proteins and expanded RNA can be found in the same location in cells and interfere with essential Read More…
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