Spinocerebellar Ataxia - Glossary

Glossary

Autosomal dominant inheritance: This type of inheritance involves acquiring a dominant form of the defective gene for a particular disease from one parent, which results in the manifestation of the disease.

Dementia: It is the decline in mental ability severe enough to interfere with daily life e.g. memory loss.

Deoxyribonucleic acid (DNA): It is a biomolecule that carries the genetic instructions used in vital life processes such as growth, development, functioning, and reproduction of all known living organisms as well as many viruses.

Extrapyramidal symptoms: These include dystonia (continuous spasms and muscle contractions), akathisia (motor restlessness e.g. restless leg syndrome), rigidity, bradykinesia (slow movements), tardive dyskinesia (irregular, jerky movements), and tremor.

Gene therapy: It involves the introduction of normal genes into cells in place of missing or defective ones in order to correct genetic disorders.

Maculopathy, pigmented: It is a pathological condition of the macula (the central part of the retina called the Fovea centralis, which is rich in pigmented cells or cone cells), associated with highly sensitive, accurate vision.

Ophthalmoplegia: Paralysis of the muscles within or surrounding the eye.

Optic nerve atrophy: This is the occurrence of mild to severe damage to the optic nerve that can adversely affect central vision, peripheral vision, and color vision.

Polymerase Chain Reaction (PCR): This is a molecular biology technique used to amplify a single copy or a few copies of a DNA molecule through several orders of magnitude, generating thousands to millions of copies of the DNA molecule.

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