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…
Escrito por Dr. Hannah K Shorrock Editado por Dr. Celeste Suart Traducid por Ismael Araujo Aliaga La acumulación de daño en el ADN sin ser reparado provocaría una cascada de efectos negativos en SCA7, resultando en la desaparición y muerte a nivel neuronal. ¿Por qué las neuronas en el cerebelo se degeneran 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…
Escrito por la Dra. Hannah K ShorrockEditado por la Dra. Larissa Nitschke Las diferencias en el riesgo de por vida en desarrollar la SCA8 están asociados con la presencia de interrupciones en la expansión de repeticiones de ATXN8 En la mayoría de ataxias espinocerebelosas causadas por expansiones de repeticiones, todo 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…
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