Glossary of Terms

 

 


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.
blood pressure:
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.
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 defects:
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.)
cognitive testing:
An assessment of thinking skills such as memory, problem solving, attention, language and decision making
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).
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.
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.
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.
geneticist:
a person who studies or specializes in genetics and genetic disorders
genome:
The entire set of genes present in an organism
granular osmiophilic material:
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.