A protein found mainly at the tips of nerve cells (neurons) in the brain. Its function is not well understood yet, though studies suggest that it may help regulate the release of dopamine, a neurotransmitter vital for controlling voluntary and involuntary movements.
Alzheimer’s disease (AD)
A neurodegenerative disease that causes progressive memory loss and severe dementia in advanced cases. AD is associated with certain abnormalities in brain tissue, involving a particular protein, beta-amyloid. The gene encoding amyloid has been located and cloned from chromosome 21.
>/h4>Alzheimer’s Disease Assessment Scale (ADAS)
An 11-part test that takes 30 minutes to complete. The ADAS is used to assess the language and memory skills of people with Alzheimer’s disease.
a state of agitation, distress, and restlessness that is an occasional side-effect of antipsychotic and antidepressant drugs.
A delay in initiating movement, or the inability to move.
Amyotrophic Lateral Sclerosis (ALS)
A progressive and fatal disorder affecting nerve cells that involves overactivation of glutamate receptors.
A blood protein produced in response to and counteracting a specific antigen. Antibodies combine chemically with substances that the body recognizes as alien, such as bacteria, viruses, and foreign substances in the blood.
A toxin or other foreign substance that induces an immune response in the body. Antigens include toxins, bacteria, foreign blood cells, and the cells of transplanted organs
An animal model is a living, non-human animal used during the research and investigation of human disease, for the purpose of better understanding the disease process. Researchers can test disease progression as well as new therapies.
A non-essential amino acid believed to play a part in the neurodegeneration of Huntington’s Disease.
Loss of balance.
A wasting away or decrease in size of a cell, tissue, or organ of the body because of disease or lack of use.
Also known as Parkinsonism, is characterized by tremors, hypokinesia, rigidity, and postural instability. The symptoms are similar to those affected by Parkinson’s Disease. However, a number of patients with Parkinsonism do not have Parkinson’s Disease. Certain medications, vascular problems and neurodegenerative diseases can cause Atypical Parkinsonism. The term is used interchangeably with Parkinson-plus syndromes.
Any of a large group of diseases characterized by abnormal functioning of the immune system. The body’s immune system causes illness by mistakenly attacking healthy cells, organs, or tissues in the body that are essential for good health.
A reflex action in which the big toe remains extended or extends itself when the sole of the foot is stimulated. A neurologic sign in Multiple Sclerosis.
The science of collecting and analyzing complex biological data such as genetic codes
A measurable substance in an organism whose presence is indicative of some phenomenon such as disease, infection, or environmental exposure.
A drug prepared from the bacterial toxin botulin, used medically to treat certain muscular conditions and cosmetically to remove wrinkles by temporarily paralyzing facial muscles.
The extreme slowness of movement and reflexes
Slowness of thought common to many disorders of the brain.
Smallest structural and functional units of an organism, typically microscopic and consisting of cytoplasm and a nucleus enclosed in a membrane
Threadlike structures of nucleic acids and proteins found in the nucleus of most living cells, carrying genetic information in the form of genes
A rigorously controlled test of a new drug or a new invasive medical device on human subjects; in the United States it is conducted under the direction of the FDA before being made available for general clinical use
Research that directly involves a particular person or group of people, or that uses materials from humans, such as their behavior or samples of their tissue and/or blood
Clinically Isolated Syndrome (ICS)
CIS is a term is used to describe a first episode of neurologic symptoms that lasts at least 24 hours and is caused by inflammation and demyelination in one or more sites in the central nervous system. Individuals who experience a CIS may or may not go on to develop Multiple Sclerosis.
A group or individual used as a standard of comparison for checking the results of a survey or experiment
A contrast agent used with single-photon emission computed tomography (SPECT) for detecting dopamine transporters (DaT) in suspected parkinsonian syndromes
Deep Brain Stimulation (DBS)
DBS is a surgical procedure used to treat a variety of disabling neurological symptoms, such as tremor, rigidity, stiffness, slowed movement, and walking problems. It involves the implantation of a medical device called a brain pacemaker, which sends electrical impulses to specific parts of the brain. DBS in select brain regions has provided therapeutic benefits for otherwise-treatment-resistant movement and affective disorders.
A degenerative process that erodes away the myelin sheath that normally protects nerve fibers. Demyelination exposes these fibers and appears to cause problems in nerve impulse conduction that may affect many physical systems. Demyelinization is seen in a number of diseases, particularly in Multiple Sclerosis.
Deoxyribonucleic acid, a self-replicating material present in nearly all living organisms as the main constituent of chromosomes. It is the carrier of genetic information.
A chronic or persistent disorder of the mental processes caused by brain disease or injury and marked by memory disorders, personality changes, and impaired reasoning
The identification of the nature of an illness or other problem by examination of the symptoms
A compound present in the body as a neurotransmitter and a precursor of other substances including epinephrine. It regulates movement and emotions.
Difficult or unclear articulation of speech (slurred speech) that is otherwise linguistically normal.
Distorted or unpleasant sensations experienced by a person when the skin is touched, that are typically caused by abnormalities in the sensory pathways in the brain and spinal cord.
Impairment of voluntary movements which can result in fragmented or jerky motions
A disturbance of coordination, caused by lesions in the cerebellum. A tendency to over- or underestimate the extent of motion needed to place an arm or leg in a certain position as, for example, in overreaching for an object.
Difficulty or discomfort in swallowing
A state of abnormal muscle tone resulting in muscular spasm and abnormal posture, typically due to neurological disease or a side effect of drug therapy.
a branch of medical science that deals with the incidence, distribution, and control of disease in a population.
A disease that is constantly present to a greater or lesser degree in people living in a particular location.
Tremor of unknown cause (usually of the hands and head) that develops in older people; often mistaken for Parkinsonism but is not life-threatening and can usually be kept under control
The portions of a gene or genome that code information for protein synthesis; the exons in the human genome
A condition resulting from the progressive deterioration of the frontal lobe of the brain
The involuntary shortening of stride and quickening of gait that occurs in some diseases.
Functional magnetic resonance imaging: a form of magnetic resonance imaging of the brain that registers blood flow to functioning areas of the brain
A unit of heredity that is transferred from a parent to offspring and is held to determine some characteristic of the offspring. Genes contain coded instructions for manufacturing a protein. They are subunits of chromosomes, which are strands of DNA contained within most cells.
The process by which information from a gene is used in the synthesis of a functional gene product. These products are often proteins, but in non-protein coding genes such as ribosomal RNA (rRNA), transfer RNA (tRNA) or small nuclear RNA (snRNA) genes, the product is a functional RNA.
Any disease that is caused by a mutation in a gene. These diseases are usually heritable, passed from parent to child, although mutations can occur sporadically and begin in a new generation.
The study of heredity and the variation of inherited characteristics
The haploid set of chromosomes in a gamete or microorganism, or in each cell of a multicellular organism.
Determining the genetic makeup of an organism.
White blood cells that are a major contributor to the immune system’s inflammatory response against myelin.
The human genome is the complete set of genetic information for humans. This information is encoded as DNA sequences within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. Human genomes include both protein-coding DNA genes and noncoding DNA.
A hereditary disease marked by degeneration of the brain cells and causing chorea and progressive dementia
Reduced degree of facial expression. It can be caused by motor impairment, as in Parkinson’s disease, or by other causes, like psychological or psychiatric factors
Soft speech, especially resulting from a lack of coordination in the vocal musculature.
Relating to or denoting any disease or condition that arises spontaneously or for which the cause is unknown
A system (including the thymus and bone marrow and lymphoid tissues) that protects the body from foreign substances and pathogenic organisms by producing an immune response that neutralizes them.
In multiple sclerosis (MS), a form of treatment that slows or inhibits the body’s natural immune responses, including those directed against the body’s own tissues. Examples of immunosuppressive treatments in MS include mitoxantrone, cyclosporine, methotrexate, and azathioprine.
The number of new cases of a disease in a specified population over a defined period of time.
Institutional Review Board (IRB)
An IRB, also known as an independent ethics committee or ethical review board, is a committee that has been formally designated to approve, monitor, and review biomedical and behavioral research involving humans. They often conduct some form of risk-benefit analysis in an attempt to determine whether or not research should be done. The main priority of IRBs is to protect human subjects from physical or psychological harm during research.
Enzyme that catalyzes the transfer of a phosphate group from ATP to a specified molecule
Leucine-rich repeat kinase 2, also known as dardarin, is an enzyme that in humans is encoded by the PARK8 gene. LRRK2 is a member of the leucine-rich repeat kinase family. Variants of this gene are associated with an increased risk of Parkinson’s disease and also Crohn’s disease
Lewy Body Disease
Dementia with Lewy bodies (DLB), also known under a variety of other names including Lewy body dementia, diffuse Lewy body disease, cortical Lewy body disease, and senile dementia of Lewy type, is a type of dementia closely associated with Parkinson’s disease
A synthetic substance that is converted in the brain to dopamine: used chiefly in the treatment of parkinsonism
A white blood cell with scavenger characteristics that has the ability to ingest and destroy foreign substances such as bacteria and cell debris.
A neurological condition, usually symptomatic of parkinsonism, in which the handwriting becomes progressively smaller
Mild Cognitive Impairment
An intermediate stage between the expected cognitive decline of normal aging and the more serious decline of dementia.
Minimal Record Of Disability (MRD)
A standardized method for quantifying the clinical status of a person with multiple sclerosis (MS). The MRD is made up of five parts: (1) demographic information, (2) the Neurological Functional Systems, (3) the Expanded Disability Status Scale, (4) the Incapacity Status Scale, and (5) the Environmental Status Scale. The MRD has two main functions: to assist doctors and other professionals in planning and coordinating the care of persons with MS, and to provide a standardized means of recording repeated clinical evaluations of individuals for research purposes.
Montreal Cognitive Assessment (MoCA)
The MoCA test is a one-page 30-point test administered in approximately 10 minutes. The MoCA is a screening tool for individuals with mild cognitive dysfunction. The test assesses 8 domains of cognitive functioning: attention and concentration, executive functions, memory, language, visuoconstructional skills, conceptual thinking, calculations, and orientation.
Nerve cells of the brain and spinal cord that enable movement of various parts of the body.
Messenger RNA is a large family of RNA molecules that convey genetic information from DNA to the ribosome, where they specify the amino acid sequence of the protein products of gene expression
Multiple Sclerosis (MS)
MS is an inflammatory disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged.
Multiple Sclerosis Functional Composite (MSFC)
A three-part, standardized, quantitative assessment instrument for use in clinical trials in MS. The three components of the MSFC measure (1) leg function/ambulation, (2) arm/hand function, and (3) cognitive function.
Multiple System Atrophy (MSA)
Multiple-system atrophy is a degenerative neurological disorder. MSA is associated with the degeneration of nerve cells in specific areas of the brain. This cell degeneration causes problems with movement, balance, and other autonomic functions of the body such as bladder control or blood-pressure regulation
A mixture of proteins and phospholipids forming a whitish insulating sheath around many nerve fibers, increasing the speed at which impulses are conducted.
Myelin Basic Protein
One of several proteins associated with the myelin of the central nervous system, which may be found in higher than normal concentrations in the cerebrospinal fluid of individuals with multiple sclerosis and other diseases that damage myelin.
An inflammatory disease of the spinal cord. In transverse myelitis, the inflammation spreads across the tissue of the spinal cord, resulting in a loss of its normal function to transmit nerve impulses up and down, as though the spinal cord had been severed.
A disease of the spinal cord.
The branch of medicine or biology that deals with the anatomy, functions, and organic disorders of nerves and the nervous system.
Branch of psychiatry relating mental or emotional disturbance to disordered brain function.
Any or all of the sciences, such as neurochemistry and experimental psychology, which deal with the structure or function of the nervous system and brain.
A biochemical substance (such as dopamine, acetylcholine, or norepinephrine) that carries signals between neurons as well as other nerve cells in the body.
Next Generation Sequencing (NGS)
Also known as high-throughput sequencing. It is the catch-all term used to describe a number of different modern sequencing technologies including: Illumina (Solexa) sequencing, Roche 454 sequencing, Ion torrent: Proton / PGM sequencing, and SOLiD sequencing. These recent technologies allow us to sequence DNA and RNA much more quickly and cheaply than the previously used Sanger sequencing, and as such have revolutionized the study of genomics and molecular biology.
Non Motor Symptoms
These symptoms include memory problems, sleep disturbance and depression
Obsessive Compulsive Disorder
A mental illness resulting in persistent illogical fears and ideas, and often, particular habits created and followed out so as to avoid the fears and anxiety they cause.
Relating to the sense of smell
When the medication begins to work and the symptoms are relieved
When the effect of the medication has worn off and symptoms begin to reappear
A progressive disease of the nervous system marked by tremor, muscular rigidity, and slow, imprecise movement, chiefly affecting middle-aged and elderly people. It is associated with degeneration of the basal ganglia of the brain and a deficiency of the neurotransmitter dopamine
Positron Emission Tomography (PET)
Positron Emission Tomography. Using a computerized radiographic technique to examine the metabolic activity in various tissues (especially in the brain)
Primary Motor Symptoms
Group of features used to diagnose Parkinson’s Disease. They include resting tremor, Bradykinesia, rigidity, and postural instability.
The manner of development of a disease.
The science of the causes and effects of diseases; the branch of medicine that deals with the laboratory examination of samples of body tissue for diagnostic or forensic purposes
Rhythmic shaking that occurs when the muscles are tensed to hold an object or stay in a given position.
The likely course of a disease or ailment.
Progressive-relapsing Multiple Sclerosis (MS)
A clinical course of MS that shows disease progression from the beginning, but with clear, acute relapses, with or without full recovery from those relapses along the way.
Progressive Supranuclear Palsy (PSP)
Progressive Supranuclear Palsy is a movement disorder that occurs from damage to certain nerve cells in the brain.
Relapsing-remitting Multiple Sclerosis (MS)
A clinical course of MS that is characterized by clearly defined, acute attacks with full or partial recovery and no disease progression between attacks.
The repair of damaged myelin. Myelin repair occurs spontaneously in MS but very slowly. Research is currently underway to find a way to speed the healing process.
Research Ethics Board (REB)
A Research Ethics Board is an independent committee often established by universities or government entities. The Board reviews the ethical acceptability of research and have the power to approve, reject, propose modifications to or terminate any research involving human participants. They are always independent of the establishing entity and their decisions cannot be overridden. Their purpose is to protect human research participants and to ensure research is conducted with the highest ethical standards.
The physical property of being stiff and resisting bending
Ribonucleic acid, a nucleic acid present in all living cells. Its principal role is to act as a messenger carrying instructions from DNA for controlling the synthesis of proteins, although in some viruses RNA rather than DNA carries the genetic information
RNA Interference (RNAi)
RNAi is a biological process in which RNA molecules inhibit gene expression, typically by causing the destruction of specific mRNA molecules. Researchers can use RNAi to test the functions of genes, and can help form the basis of novel therapies to treat disease.
Hardening of tissue. In MS, sclerosis is the body’s replacement of lost myelin around central nervous system nerve cells with scar tissue.
Exhibits symptoms similar to Parkinson’s disease, but caused by certain medicines, a different nervous system disorder, or another illness
Secondary Motor Symptoms
In Parkinson’s disease these include freezing, micrographia, hypomimia, stooped posture, a tendency to lean forward, dystonia, impaired fine motor dexterity and motor coordination, impaired gross motor coordination, poverty of movement (decreased arm swing), akathisia, speech problems, such as softness of voice or slurred speech caused by lack of muscle control, difficulty swallowing, sexual dysfunction, cramping, and drooling
Secondary-progressive Multiple Sclerosis (MS)
A clinical course of MS that initially is relapsing-remitting and then becomes progressive at a variable rate, possibly with an occasional relapse and minor remission.
A gene found on human chromosome 4 that codes for alpha-synuclein. Autosomally dominant mutations of SNCA have been identified in several families with inherited Parkinson’s Disease
Single-nucleotide polymorphism; a DNA sequence variation occurring when a Single Nucleotide — A, T, C or G — in the genome (or other shared sequence) differs between members of a biological species or paired chromosomes
Occurring at irregular intervals or only in a few places; scattered or isolated
An inability to stand upright due to disturbed coordination of the involved muscles, which results in swaying and a tendency to fall in one or another direction.
Undifferentiated cell of a multicellular organism that is capable of giving rise to indefinitely more cells of the same type, and from which certain other kinds of cell arise by differentiation
The area of the brain that controls movement, balance, and walking.
A layer of deeply pigmented grey matter in the midbrain; associated with the striate body; is involved in metabolic disturbances associated with Parkinson’s disease and with Huntington’s disease
A physical or mental feature that is regarded as indicating a condition of disease, particularly such a feature that is apparent to the patient.
An involuntary quivering movement
Unified Parkinson’s Disease Rating Scale. A rating scale used to follow the longitudinal course of Parkinson’s disease. The UPDRS is the most commonly used scale in the clinical study of Parkinson’s Disease.
Vacuolar protein sorting-associated protein 35 is a protein that in humans is encoded by the VPS35 gene.
The part of the brain that contains myelinated nerve fibers–and therefore appears white–in contrast to the cortex of the brain, which contains nerve cell bodies and appears gray.