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SCAsource Snapshot

Snapshot: What is recessive ataxia?

What is a recessive disorder? A recessive disorder is one that has a specific disease mechanism. For a recessive disorder to occur, both copies of the causative gene must be mutated for a patient to show symptoms.  Ataxias that follow this disease mechanism are known as recessive ataxia. However, having Read More…

Snapshot: What is Magnetic Resonance Imaging (MRI)?

What is it? Magnetic resonance imaging (MRI) is a type of technology used to take detailed pictures of the body. It is commonly used to detect abnormalities in the body, diagnose diseases, and to regularly monitor patients who are undergoing treatments. It can generate three-dimensional images of non-bony tissues, such Read More…

Snapshot: What is RNAi?

RNA interference, or RNAi, is a natural biological process that inhibits the expression of a specific gene. In medicine, targeted RNAi therapies can be used to silence the expression of a disease-causing gene. To understand RNAi, you first have to understand RNA. An overview of  RNA is the messager between Read More…

Snapshot: What is RAN translation?

In many diseases caused by repeat expansion mutations in the DNA, harmful proteins containing repetitive stretches are found to build up in the brain. The repeat expansion mutation, when translated into a protein, results in an abnormally expanded repeat tract that can affect the function of the protein and have Read More…

Snapshot: What is CRISPR?

A common nuisance for bacteria is the bacteriophage: a virus that uses the internal machinery of a bacteria to replicate its own genetic material. Bacteriophages do this by latching onto bacteria and injecting their DNA into the cell. As the cell grows and divides, the bacteriophage’s hope is that their Read More…

Snapshot: What is RNA?

RNA is an important molecule that helps with regulating the function of cells. To fully understand how RNA fits in here, we must first look at the bigger picture: genetics. The central dogma of molecular biology, depicted below, states that DNA is copied (transcribed) into RNA, which is later decoded Read More…

Snapshot: What is Gene Therapy?

Gene therapy is using nucleic acids to treat a genetic disorder.  These nucleic acids can be designed in a variety of ways to achieve the same therapeutic outcome. Gene therapy tools can be used to correct a mutant gene by one of three ways: Expressing a healthy copy of a Read More…

Snapshot: What is a biomarker?

A biomarker is any biological-based measurement that provides useful information regarding a person’s health. For example, blood test results showing increased glucose levels can be used as a biomarker for diabetes. A blood test showing an increased white blood cell count is a biomarker for infection. There are many sources of Read More…

Snapshot: How do clinicians measure the severity of ataxia in patients?

Coordination of smooth and effective movements is essential in daily tasks, such as speaking or walking. The ability to successfully orchestrate these movements is commonly referred to as “motor coordination”. While SCA patients can generally initiate movements with their bodies, their ability to execute these in a smooth and precise Read More…

Snapshot: What is the Cerebellum?

The cerebellum, often referred to as the “little brain”, is part of the brain that is located behind the cerebrum (forebrain). The cerebellum accounts for about 10% of the brain’s volume. Despite occupying a small volume, the cerebellum contains more than half of the neurons in the brain. Most of Read More…

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