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Beyond Capicua: Discovery of new proteins implicated in SCA1 pathology

Written by Katerina Pliatsika    Edited by Hannah K Shorrock, PhD Additional proteins which interact with ATXN1 contribute to toxicity in a SCA1 mouse model.  In neurodegenerative diseases, a problematic gene and its resulting protein play a crucial role in the selective loss of brain cells. However, a fundamental question remains unanswered: Read More…

Snapshot: What is the Brief Ataxia Rating Scale (BARS)?

How do you accurately measure something as nuanced as coordination? For clinicians assessing ataxia, this question has driven the development of various rating scales. The Brief Ataxia Rating Scale is one of the scales developed. It is a clinical tool that assesses ataxia severity. However, it is simplified to be Read More…

Snapshot: What is Brain-derived neurotrophic factor (BDNF)?

BDNF stands for Brain-derived neurotrophic factor. BDNF is a protein found in the brain that belongs to the group of neurotrophic proteins. Neurotrophic means that these proteins promote the survival and growth of new neurons during brain development and the survival and function of existing neurons in the adult brain. Read More…

Snapshot: What is CACNA1A?

CACNA1A is a gene that contains the genetic information needed to make a transcription factor and a part of a calcium channel. The gene is mainly expressed in the brain and is pivotal to various neuronal functions such as muscle contractions, memory, learning, and gene expression. Mutations in CACNA1A has Read More…

Snapshot: What is Electromyography (EMG)?

Electromyography, or EMG, is a technique for measuring the electrical activity of skeletal muscles—the muscles that connect to bones and support movement.   When our muscles contract, the tissue produces tiny electrical signals. This electrical activity results from the conduction of specialized peripheral nerves (nerves located outside of the brain or Read More…

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…

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