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Snapshot: What is Neuropathy?

Our nervous system consists of the central and the peripheral nervous system. The brain and spinal cord are components of our central nervous system (CNS), while the peripheral nervous system consists of all other nerves that travel from the CNS to supply our face and the rest of our body. Read More…

Online Speech Therapy program helps improve speech in ataxia

Written by Caroline Spencer, PhD  Edited by Celeste Suart, PhD  ClearSpeechTogether is a virtual group-based speech therapy program for people with speech problems due to progressive ataxia.   In this article, researchers studied whether an online, group speech therapy program was helpful for people with ataxia. The study tested the hypothesis that Read More…

Snapshot: What is a De Novo Mutation?

For healthy function, our body performs many essential cellular processes mediated by the molecules created within us. This construction is based on a molecule called DNA, which acts as an instruction manual by carrying all the genetic information within our body. Every person’s genome, or collection of DNA, is completely Read More…

Snapshot: What is Myoclonus?

Myoclonus is a neurological clinical sign marked by sudden, quick, and involuntary muscle contractions or jerks. These contractions can happen in one muscle group or in several muscle groups at the same time. Myoclonus can be a single incidence or occur in a repetitive pattern. The intensity and frequency of Read More…

Snapshot: What is Aspiration?

Aspiration refers to the entry of food, liquid, saliva, or other materials into the airway instead of the esophagus during swallowing. This can occur when the coordination of muscles involved in swallowing is disrupted. As a result, materials can “go down the wrong pipe,” potentially leading to choking or respiratory Read More…

Snapshot: What is Alternative Splicing?

To function properly, our body depends on many essential processes that are moderated by molecules created within us. Creating these crucial molecules, also called proteins, involves multiple steps and precursor molecules (Figure 1). In the first step, the DNA, which serves as the reference blueprint and contains the vital information Read More…

Alternative splicing: Potential disease mechanism for SCA1

Written by Christina PengEdited by Larissa Nitschke, PhD Ever since the CAG expansion of the Ataxin-1 (ATXN1) gene has been identified as the cause of spinocerebellar ataxia type 1 (SCA1), researchers have been on the hunt for the mechanism of the disease. How does this mutation cause SCA1? So far, Read More…

Snapshot: What is Areflexia?

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…

Spotlight on Glia in Spinocerebellar Ataxia Type 1

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…

Snapshot: What are Pyramidal Signs?

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…

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