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Definitions

Animal model
refers to a non-human animal with a disease or injury that is similar to a human condition. These test conditions are often termed as animal models of disease. The use of animal models allows researchers to investigate disease states in ways which would be inaccessible in a human patient, performing procedures on the non-human animal that imply a level of harm that would not be considered ethical to inflict on a human.

Arginine (ahr-juh-neen)
an amino acid that plays a role in cell division, healing of wounds, removing ammonia from the body, improving immunity to illness, and hormone secretion. Arginine is used by the body to make nitric oxide, a substance that relaxes blood vessels.
Arteriopathy  (är- tir- - äp- -th ) 

Arteries  (ahr-tuh-ree)
A disease of the arteriesany of the tubular branching muscular and elastic-walled vessels that carry blood from the heart through the body

Asymptomatic [ey-simp-tuh-mat-ik, ey-simp-]
there are no symptoms

Autosomal  [aw-tuh-sohm]
refers to any of the chromosomes other than the sex-determining chromosomes (i.e., the X and Y) or the genes on these chromosomes.

Autosomal Dominant –[aw-tuh-sohm dom-uh-nuh http://sp.dictionary.com/dictstatic/dictionary/graphics/luna/thinsp.pngnt]
A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene), Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant gene and therefore the disorder onto each of their children.

Autosomal Ressesive [aw-tuh-sohm re·ces·sive]
Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.

Basil Gingili
a group of brain areas that collectively are involved with control of normal movement and walking. The caudate nucleus and putamen (straitum), globus pallidus and substantia nigra are important basal ganglia structures.

Blood Pressure
The rate at which the blood pumps flows your arteries. High BP means that your heart strains to push blood through your arteries and can cause headaches & dizziness in the short term. High BP is a risk factor for Stroke

Blood Thinners
a drug used to prevent the formation of blood clots by hindering coagulation of the blood which should be avoided with patients who have been diagnosed with CADASIL.

CSVD
Cerebral Small Vessel Disease

Cell
the smallest units of living structure capable of independent existence, composed of a cell membrane-enclosed mass of protoplasm and containing a nucleus or nucleoid. Cells are highly variable and specialized in both structure and function, though all must at some stage replicate proteins and nucleic acids, utilize energy, and reproduce themselves.

Cholesterol  [kuh-les-tuh-rohl, -rawl]
a waxy, fat-like substance made in the liver, and found in the blood and in all cells of the body, Cholesterol is important for good health and is needed for making cell walls, tissues, hormones, vitamin D, and bile acid. Cholesterol also comes from eating foods taken from animals such as egg yolks, meat, and whole-milk dairy products. Too much cholesterol in the blood may build up
heart disease and stroke.

Cerebral   [suh-ree-bruh
relating to the brain or cerebrum

Chromosome [kroh-muh-sohm]
very long DNA molecule and associated proteins, that carry portions of the hereditary information of an organism.

Cognitive Deficits
collection of thinking skills that are carried out by the brain (e.g. memory, problem solving, attention, language, decision making, etc.

Condon [kon-duhhttp://sp.dictionary.com/dictstatic/dictionary/graphics/luna/thinsp.png m, kuhn-] Position 
specific sequence of three consecutive nucleotides that is part of the genetic code and that specifies a particular amino acid in a protein or starts or stops protein synthesis

Cysteine [ sís tn ]
an amino acid found in many proteins in the body, including keratin. It is a metabolic precursor of cystine and an important source of sulfur for various body functions.

DNA
Deoxyribonucleic acid  is a nucleic acid that contains the genetic instructions for the development and functioning of living organisms. All living things contain DNA genomes

Dementia [dih-men-shuh, -shee-uh]
Significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning. Criteria for the diagnosis of dementia include impairment of attention, orientation, memory, judgment, language, motor and spatial skills, and function.  

Demyelination [dee-mahy-uh-luh-ney-shuhhttp://sp.dictionary.com/dictstatic/dictionary/graphics/luna/thinsp.png n]
describes damage to the myelin sheaths which surround the nerve fibres in the central or peripheral nervous system. This prevents the nerve fibres from conducting impulses properly, which leads to symptoms and signs of problems in the nervous system.

De Novo Mutation (de noh-woh; Eng. dee noh-voh, dey)
a genetic mutation that neither parent possessed nor transmitted. 

Dominant
only one gene is necessary to have the trait. When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait.

Epileptic Seizures [ep-uh-lep-tik]
the physical manifestations (as convulsions, sensory disturbances, or loss of consciousness) resulting from abnormal electrical discharges in the brain (as in epilepsy)

Executive Function
The cognitive process that regulates an individual's ability to organize thoughts and activities, prioritize tasks, manage time efficiently, and make decisions. Impairment of executive function is seen in a range of disorders, including some pervasive developmental disorders and nonverbal learning disabilities.

Electron Microscope [ih-lek-tron]
an electron-optical instrument in which a beam of electrons is used to produce an enlarged image of a minute object

Familial [fuh-mil-yuhhttp://sp.dictionary.com/dictstatic/dictionary/graphics/luna/thinsp.png l, -mil-ee-uhhttp://sp.dictionary.com/dictstatic/dictionary/graphics/luna/thinsp.png l]
A condition that is tends to occur more often in family members than expected by chance alone. A familial disease may be genetic.

Gait
a manner of walking or moving on foot

Gene (jēn)
the biologic unit of heredity, self-reproducing and located at a definite position (locus) on a particular chromosome.

Genetic Counselor
genetic consultation is a health service that provides information and support to people who have, or may be at risk for, genetic disorders. During a consultation, a genetics professional  meets with an individual or family to discuss genetic risks or to diagnose, confirm, or rule out a genetic condition

Genetic Testing
genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders.

Gene Therapy
the insertion of usually genetically altered genes into cells especially to replace defective genes in the treatment of genetic disorders or to provide a specialized disease-fighting function (as the destruction of tumor cells)

Grey Matter
Those regions of the nervous system especially containing predominantly unmyelinated tissue and includes such regions as the cerebral cortex and areas such as cranial nerve nuclei.

GOM
Granular Osmiophilic Material which is thought to be made of clumps of excess protein in the skin of patients with CADASIL.

Hetrozygous (het-er-o-zi-guis)
Possessing two different forms of a particular gene, one inherited from each parent.

Infarct ( in- färkt-)
a pathological process consisting of a sudden insufficient blood supply to an area, which results
in necrosis of that area. An area of tissue death due to a local lack of oxygen.

Infarction (in- färk-sh n) 
the formation of an infarct, an area of tissue death due to a local lack of oxygen

Lacunar Stroke
type of stroke which literally means ‘a small lake’ or hole in the brain because it is small in size

Leukoencephalopathy
(/-in- sef- - läp- -th /)
the destruction of the myelin sheaths that cover nerve fibers. These sheaths, composed of  lipoprotein layers, promote the transmission of a neural impulse along an axon.

Mental Disorder
broad class of abnormalities of thought, feeling, and behavior, resulting in distress or impairment.

Memory (mem·o·ry/ (mem´o-re)
that faculty by which sensations, impressions, and ideas are stored and recalled

Migraines
neural condition characterized by a severe recurrent vascular headache, usually on one side of the head, often accompanied by nausea, vomiting, and photophobia, sometimes preceded by sensory disturbances.

Mutation (myü- t -sh n) 
a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino acid sequence of the protein encoded by the gene.

Mutation Carriers

people have the defective gene for CADASIL

MRI
magnetic resonance imaging (MRI) is a method for making detailed images of the brain. MRI uses magnetic fields and radio wave to make its images.

MID
Multi-infarct dementia (MID) is the most common form of vascular dementia, which is a deterioration in mental function caused by strokes. "Multi-infarct" means that multiple areas in the brain have been injured due to a lack of blood.

Meylin
sometimes referred to as "white matter" because of its white, fatty appearance, protects and insulates the axons. It consists of a protective sheath of many different molecules that include both lipids (fatty molecules) and proteins. This protective sheath acts in a manner very similar to that of the protective insulation that surrounds an electric wire; that is, it is necessary for the rapid transmission of electrical signals between neurons. It does this primarily by containing the electrical molecules (called ions) within the axon so that they are properly transmitted to the next neuron.

Myocardial Infarctions [mahy-uh-kahr-dee-uhhttp://sp.dictionary.com/dictstatic/dictionary/graphics/luna/thinsp.png m]
term "myocardial infarction" focuses on the myocardium (the heart muscle) and the changes that occur in it due to the sudden deprivation of circulating blood. The main change is necrosis infarction (death) of myocardial tissue.

New Mutation

an alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the parents or in the fertilized egg itself.

Neurologist
A doctor who specializes in disorders of the brain and central nervous system.

Nucleotide Position (nukle-o-tid)    
one of the structural components, or building blocks, of DNA and RNA. A nucleotide consists of a base (one of four chemicals: adenine, thymine, guanine, and cytosine) plus a molecule of sugar and one of phosphoric acid.

Prevalence ( prev(- )-l n(t)s)
the proportion of individuals in a population having a disease. Prevalence is a statistical concept referring to the number of cases of a disease that are present in a particular population at a given time.

Protein ( pr t- - n)
molecule made up of amino acids that are needed for the body to function properly. Proteins are the basis of body structures such as skin and hair and of substances such as enzymes, cytokines, and antibodies.

Psychological [sahy-kuh-loj-i-kuhhttp://sp.dictionary.com/dictstatic/dictionary/graphics/luna/thinsp.png l]
relating to, characteristic of, directed toward, influencing, arising in, or acting through the mind especially in its affective or cognitive functions

Receptor (ri- sep-t r)
molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell.

Risk Factor
something that may increase the chance of developing a disease. Some examples of risk factors for cancer include age, a family history of certain cancers, use of tobacco products, certain

RNA
Ribonucleic acid (RNA) is a nucleic acid polymer consisting of nucleotide monomer. RNA serves as the template for translation of genes into proteins, transferring amino acids to the ribosome to form proteins, and also translating the transcript into proteins.

Skin Biopsy
under local anesthesia, a small piece of skin is taken from upper arm or thigh and is closed with one or two sutures.

Stroke
is a term for brain hemorrhage and brain infarction. If a brain artery is blocked, for instance by a blood clot, the flow of oxygen-saturated blood to a large number of nerve cells is obstructed.

Subcortical[suhb-kawr-ti-kuhhttp://sp.dictionary.com/dictstatic/dictionary/graphics/luna/thinsp.png l]
the portion of the brain immediately below the cerebral cortex.

Timp 3
The official name of this gene is “TIMP metallopeptidase inhibitor 3. This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM)

Testing
Patients with CADASIL have one mutated copy of the gene and one normal copy. This means that each child has a 50% chance of inheriting the disease. Occasionally, a new mutation in the gene can occur and cause the disease even though both parents are healthy.

TIA
Transient ischemic Attack is a reversible episode of oxygen depletion. Brief episode of cerebral ischemia that is usually characterized by temporary blurring of vision, slurring of speech, numbness, paralysis, or syncope and that is often predictive of a serious stroke—abbreviation TIA; called also mini-stroke

Transient  [tran-shuh http://sp.dictionary.com/dictstatic/dictionary/graphics/luna/thinsp.pngnt, -zhuh http://sp.dictionary.com/dictstatic/dictionary/graphics/luna/thinsp.pngnt, -zee-uh http://sp.dictionary.com/dictstatic/dictionary/graphics/luna/thinsp.pngnt]
Existing temporarily

VSMC
Vascular Smooth Muscle Cell

Vascular    [vas-kyuh-ler]
of, relating to, constituting, or affecting a tube or a system of tubes for the conveyance of a body fluid (as blood or lymph)

Vessels

tube or canal (as an artery, vein, or lymphatic) in which a body fluid (as blood or lymph) is contained and conveyed or circulated VTN -
Vitronectin also known as VTN is a protein that in humans is encoded by the VTN gene. The protein encoded by this gene is a member of the pexin family.

White Matter
neural tissue especially of the brain that consists largely of myelinated nerve fibers bundled into tracts, has a whitish color, and typically underlies the gray matter

Patients blood positive test might look like this: Heterozygous for a C to T base change at nucleotide 505 of the Notch 3 gene that changes a condon for arginine (CGC) to one for cysteine (TGC) at amino acid position 169. This patients mutation would be a R169C- mutation.

This resource is only a guide which should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified health-care professional.

References:
http://en.wikipedia.org/wiki/Main_Page
www.online-medical-dictionary.org
www.nlm.nih.gov/medlineplus/mplusdictionary.html
www.nlm.nih.gov/medlineplus/encyclopedia.html
www.medterms.com
http://dictionary.webmd.com/
http://dictionary.reference.com/medical/

 

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