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Glossary

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

 

A  

ADJUSTMENT

the process by which an individual comes to terms with any changes that may have resulted in their life

ANTI-ANXIETY

medication that is usually prescribed by physicians for people who are feeling very anxious

ANTI-DEPRESSANT

medication that is usually prescribed by physicians for people who are feeling very low in mood / depressed

ANXIETY

a psychological condition characterised by feelings of constant worry, restlessness or feeling ‘on edge’. This is often accompanied by uncomfortable physical sensations such as dizziness, sweating, heart palpitations and shakiness.

ATTENTION

a person’s ability to focus on things in their environment

AUTOSOMAL DOMINANT INHERITANCE

this means that part, or all of the risk of inheriting a disease, is passed down from one’s parents.  Everybody has two copies of each gene, one passed down from their mother, and one from their father.  In CADASIL, an abnormality in only one of these two copies can result in the disease.

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B  

BLOOD PRESSURE (BP)

this is the rate at which blood pumps through 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.

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C  

CHOLESTEROL

a waxy substance found in foods such as milk, meat and`` eggs. It is also manufactured inside the human body. High cholesterol is a risk factor for Stroke and it can be measured through a blood test.

COGNITION

this is an umbrella term that refers to a collection of thinking skills that are carried out by the brain (e.g. memory, problem solving, attention, language, decision making, etc.)

COGNITIVE DEFICITS

this is a term used to describe problems or impairment in cognition / cognitive function (e.g. difficulties in memory, problem solving, attention, language, decision making, etc.)

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D  

DEPRESSION

a psychological condition characterised by feelings of low mood and sadness lasting for more than 2 weeks. Other symptoms also include problems with sleeping, reduced appetite, reduced interest in doing things (decreased motivation).

DIAGNOSTIC GENETIC TESTING

this form of testing is used to confirm a diagnosis and is undertaken where there is a strong clinical suspicion that an individual has CADASIL (e.g. if one has symptoms of CADASIL or one has had an MRI scan of the brain or a skin biopsy that suggests a diagnosis of CADASIL).

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E  

EXECUTIVE FUNCTION

this is umbrella term used to describe a range of high level cognitive skills including planning, sequencing, switching attention between tasks, decision making, problem solving, etc.

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G  

GENE

the basic physical unit of heredity; a linear sequence of nucleotides along a segment of DNA that provides the coded instructions for synthesis of RNA, which, when translated into protein, leads to the expression of hereditary character. In CADASIL there is an abnormality in one very small part of a gene known as NOTCH3.

GENETICIST

a person who studies or specializes in genetics and genetic disorders

GENETIC COUNSELLING

this involves providing advice for couples with a history of inherited disorders (such as CADASIL) who wish to have children. Information is also given about the likelihood of having affected children, the course of the disease and the management of the disorder.

GENETIC TESTING

this procedure is helpful for detecting whether an abnormality exists. In CADASIL the abnormalities that occur are all within one gene which is called the NOTCH3 gene.

GRANULAR OSMIOPHILIC MATERIAL (GOM)

these are the abnormal collections of material observed on a skin biopsy under high magnification. The presence of GOM would suggest with certainty that an individual does have CADASIL.  However, there are times when skin biopsies are normal even in patients with definite CADASIL.  GOM can be detected on skin biopsy in 60-80% of CADASIL patients.

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I  

IN VITRO FERTILISATION (IVF)

this is a specialised technique by which an ovum (egg) is fertilised by sperm outside the body, with the resulting embryo later implanted in the uterus for gestation

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L  

LACUNAR STROKE

a type of stroke which literally means ‘a small lake’ or hole in the brain because it is small in size and tends to have fairly mild consequences with good recovery

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M  

MAGNETIC RESONANCE IMAGING (MRI)

this is a non-invasive diagnostic procedure that uses a magnetic scanner to obtain detailed images of the internal structure of the body and brain

MEMORY

a cognitive skill (thinking skill) whereby one is able to remember things. There are many different kinds of memory, for example, memory for what you have done during the day, memory for appointments in the future, memory for people faces and names, memory for your past experiences, memory for riding a bike or driving a car.

MIGRAINE

this is usually called a “complex” migraine, where in addition to the headaches there are other short-lived symptoms, such as disturbance of vision, numbness down one side of the body or speech disturbance. Migrane are a common feature of the CADASIL disease.  This most commonly starts when one is in their 20s but it can start earlier or later for some people.

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N  

NEURO-COGNITIVE ASSESSMENT

a formal assessment that is carried out by a Clinical Neuropsychologist in order to find out which thinking skills have been affected by an injury to the brain. This is also called ‘a neuropsychological assessment’.

NEUROPSYCHOLOGICAL ASSESSMENT

a formal assessment that is carried out by a Clinical Neuropsychologist in order to find out which thinking skills have been affected by an injury to the brain. This is also called ‘a neuro-cognitive assessment’.

NEUROPSYCHOLOGIST

a professional trained to work with people who have sustained injury to the brain (e.g. due to stroke or a genetic cause) from a psychological perspective

NEUROLOGIST

a professional trained to diagnose and treat diseases of the nervous system

NOTCH 3

this is the gene associated with the CADASIL disease. It is known that a very small part of NOTCH3 gene is affected in the disease. Research has proposed that the protein produced by the NOTCH3 gene, is responsible for communication between cells within the body, although much work is still required on this subject.

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P  

PRE-IMPLANTATION GENETIC DIAGNOSIS (PGD)

this procedure involves developing several embryos which are only re-implanted in the mother if they are found not to be carries of the CADASIL gene change, thus excluding the chance of the gene change being passed on to subsequent generations

PREDICTIVE GENETIC TESTING

this form of genetic testing is undertaken on individuals who have no obvious signs of CADASIL but have an affected relative (usually a first degree relative – i.e. parent, sibling or child)

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Q  

QUALITY OF LIFE

the term quality of life is used to evaluate the general well-being of individuals and societies

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R  

RADIOLOGIST

a professional who is trained to carry out and interpret x-rays and scans

RISK FACTORS

these are factors that lead to an increased risk of disease progression. Recent studies have shown that the risk factors such as high cholesterol, smoking and high blood pressure are associated with earlier onset of stroke or increased rate of change on MRI scans in people with CADASIL.

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S  

SEIZURES

this is occasionally referred to as a fit and is a rare feature in CADASIL. This is defined as a short term (transient) symptom of abnormal excessive or synchronous activity in the brain cells.

SKIN BIOPSY

this is a procedure in which a part of the skin is removed so that it can be analysed for diagnosis. It is usually done under local anesthetic in the CADASIL clinic.

STANDARD PRENATAL DIAGNOSIS (SPD)

this procedure involves analysis of the embryo at around 11 – 12 weeks to explore whether the there is a change in the CADASIL gene

STROKE

this is a clinical syndrome of rapid onset of focal or global cerebral deficit lasting more than 24 hours or leading to death, with no apparent cause other than a vascular one

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T  

TREATMENT

this involves the act of resolving symptoms. There is no specific treatment for CADASIL available at the moment.  However, there is treatment to reduce the risk factors and for reducing discomfort caused by the symptoms of CADASIL (e.g. migraine).

TRANSIENT ISCHEMIC ATTACK (TIA)

this is a form of an ischemic stroke that is distinguished by its short duration (lasting less than 24 hours) whereby symptoms resolve completely

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