FAQ Vocabulary

Glossary

Allele: An allele is a variant of a gene. For example, one allele might give you brown eyes, and another might give you blue eyes. Everyone has two alleles for each gene—one from each parent.

Autosomal Dominant Cerebellar Ataxia: This is a type of genetic condition where individuals have balance and coordination issues. The cerebellum, a brain area that controls movement, begins losing its function due to a mutated gene. It is passed down in an autosomal dominant way, so one parent with the gene can impart it on their kids.

Autosomal Dominant Disorder: These types of disorders mean that you only need one copy of a mutated gene from either parent to get the disorder.

Autonomic Nervous System: The autonomic nervous system controls the body functions that you don’t think about, like heartbeat, breathing, and digestion. It works automatically (hence the name), without you having to order it, so it helps your body run smoothly without thinking.

Atrophy: Atrophy is when something shrinks or wastes away. In terms of muscles or organs, it means they get smaller and weaker over time. For example, if muscles aren’t used, they can shrink. Similarly, if brain areas are damaged, they can shrink too.

Axonal Neuropathy: Axonal neuropathy is a type of nerve damage where the long part of the nerve (called the axon) gets hurt. This can cause problems with feeling, movement, and other functions because the nerve signals don’t travel properly.

Central Nervous System (CNS): The central nervous system is made up of your brain and spinal cord. It controls everything your body does, like thinking, moving, and feeling. Think of it like the “command center” for your body.

Cerebellar Ataxia: Cerebellar ataxia is a condition where the cerebellum (the brain structure that controls balance and coordination) gets damaged, leading to problems with walking, balance, or even speech. It makes it hard for a person to control their movements smoothly.

Chromosome: A chromosome is a long strand of DNA that has many genes. Humans have 46 chromosomes (23 pairs) in each cell, which carry the information for making all the proteins in our body.

Deletion mutation: A deletion mutation happens when one or more base pairs of DNA are lost or deleted. This can interrupt the gene processing because the genetic code might be missing important information.

DNA: DNA is the molecule that carries the body’s genetic information. It’s like a cookbook for making all the proteins that do different jobs in your body.

DNA Methyltransferase Type 1 (DNMT1): DNMT1 is a special enzyme that helps add methyl groups to DNA, especially after DNA is copied when cells divide. Methyl groups are like tiny “tags” on the DNA which help regulate which genes are turned on or off. This helps keep the DNA in the right state, ensuring proper gene expression and cell function. Mutations within this gene can disrupt its function and manifest as HSAN1E.

Dysexecutive Syndrome: This is a condition where someone has trouble thinking and planning. They might struggle to make decisions, organize tasks, or control their behavior, because the brain area that helps with these things isn’t working well.

Electroneurograms (ENG): Electroneurograms are tests that measure how well your nerves are working by checking their electrical signals. It’s like using a “nerve scanner” to see if your nerves are sending the right signals, especially if you’re having problems with sensation or movement.

Enzyme: An enzyme is a protein that helps speed up chemical reactions in our bodies

Exon, DNMT1 gene exon 20 and 21: Exons are considered the important part of the genes that hold the instructions for making proteins. Mutations in exon 20 of this gene are linked to HSAN1E and dementia, while mutations in exon 21 are associated with HSAN1E/ADCADN and narcolepsy.

Frameshift mutation: A frameshift mutation occurs when DNA is added or removed in a way that shifts the reading frame of the gene. This changes how the cell “reads” the instructions to make a protein, causing the protein to be made incorrectly.

Gene: A gene is like a set of instructions inside your body that tells your cells what to do. These instructions are made of DNA and decide things like your hair color, eye color, and even how your body works. Genes are passed down from parents to children, which is why family members often look or act alike.

Gene mutation: A gene mutation is a change in the DNA sequence. This can happen naturally or be caused by environmental factors. These changes may lead to diseases or changes in traits.

Genetic Tests: Genetic tests are tests that look at your DNA (the special code inside your cells that makes you who you are) to check for changes or mutations that might cause diseases or conditions. It can help doctors figure out if you’re at risk for certain health issues.

Hotspot mutation: A hotspot mutation is a place in the DNA that is more likely to have changes or mutations due to the areas being more prone to mistakes.

HSAN1E (Hereditary Sensory and Autonomic Neuropathy type 1E): HSAN1E is a rare genetic disorder that affects the nerves, especially those that control feeling and automatic functions in your body (like heartbeat and digestion). Individuals with HSAN1E might have trouble feeling pain or temperature, and their nerves might stop functioning over time.

Maintenance DNA methyltransferase: This is an enzyme (a protein that speeds up bodily reactions) that helps keep the DNA in our cells stable by adding small chemical tags to DNA. This process helps control which genes are active and which are silent.

Missense mutation: A missense mutation is a change in the DNA that causes one amino acid (building block of proteins) to be replaced with another. This may change the protein’s function and can lead to diseases or conditions.

MRI Scan: An MRI (Magnetic Resonance Imaging) scan is a special kind of scan that uses magnets and radio waves to make detailed pictures of your insides, like your brain or muscles. It’s non-invasive, meaning it doesn’t require surgery or cuts, and it helps doctors see what’s happening in your body.

Narcolepsy: Narcolepsy is a sleep disorder where people feel very sleepy during the day and may suddenly fall asleep, even in the middle of a task. This happens because the brain can’t properly control sleep-wake cycles.

Neurodegenerative: Neurodegenerative refers to conditions where the brain or nerves gradually decline. These diseases cause the brain to lose its ability to function, and people might experience problems with memory, movement, or behavior.

Neurodivergent: Neurodivergent is a term used to describe people whose brains work or process information in ways that are different from what is considered “typical.” This includes conditions like autism, ADHD, dyslexia, and others. Being neurodivergent isn’t a problem or something bad—it just means someone’s brain works differently, and those differences can bring unique strengths and challenges.

Neuropathy: Neuropathy is a condition where the body’s nerves stop working properly. It can cause pain, numbness, or weakness, especially in the hands or feet.

Neurotypical: Neurotypical is the term used to describe people whose brains and behaviors are considered typical or “normal” in the general population. It’s the opposite of neurodivergent, which refers to people whose brains work differently, like those with autism or ADHD.

Next Generation Sequencing (NGS) panel: A Next Generation Sequencing (NGS) panel is a powerful scientific tool used to study DNA. It’s like a super-advanced test that looks at many genes at once to find changes or mutations in them. Scientists or doctors use NGS panels to learn about genetic conditions, diagnose diseases, or decide on the best treatments.

Pathology: Pathology is the study of diseases. When doctors or scientists look at body tissues under a microscope, they can see what’s wrong—like if there’s an infection, cancer, or other body problems.

Peripheral Nervous System (PNS): The peripheral nervous system includes all the nerves outside of your brain and spinal cord. It sends messages from your brain to your muscles and organs, and also carries information from your body back to your brain. It’s like the “messenger system” of the body.

Polysomnography: Polysomnography is a test that records things like brain waves, heart rate, and breathing while you sleep. It helps doctors discover if you have sleep problems, like sleep apnea or narcolepsy, by watching your body’s behavior while asleep.

Proband: A proband is the first person in a family who is studied for a genetic condition. This person is often the one who shows signs of a disease, and researchers study them to understand how the disease is inherited.

RNA: RNA is the messenger that helps carry the instructions in DNA to other parts of the cell where proteins are made.

Scleroderma Spectrum Disorder: Scleroderma is a disease that causes the skin and sometimes internal organs to become thick and hard. It is part of a group of disorders called the “scleroderma spectrum” because it affects different body parts in different ways. It can make it hard for the body to move or function.

Somnambulism: Somnambulism is another name for sleepwalking. It’s when someone gets up and walks around while they are asleep. They might do things like walk to another room or talk, but they won’t remember it after waking up.

SPECT Scan: A SPECT scan (Single Photon Emission Computed Tomography) is a type of imaging test that helps doctors see how blood is flowing in your brain or other body parts. It’s like a special camera that shows what’s happening inside you, especially with brain activity.

Spinocerebellar Degeneration: This is a group of diseases where part of the brain (called the cerebellum) and the spinal cord get damaged over time. It affects movement, balance, and coordination. It usually happens slowly, and the person may have trouble with everyday tasks like walking.

Transgenic Mice: Transgenic mice are mice that have had a new gene (or genes) from another animal or organism inserted into their DNA. Scientists use these mice to study diseases or to test new treatments.

Targeting sequence domain: This is a part of a protein or enzyme that helps it find and bind to a specific DNA sequence. It’s like a key that fits a lock in the DNA to help it perform a job, like editing or repairing genes.