Huntington's Disease Glossary Page

Amino acid: Building blocks of proteins

Autosomal dominant mutation: Genetic mutation with 50/50 chance of inheritance independent of sex

Basal ganglia: Caudate nucleus, putamen, globus pallidus; a group of nuclei involved in the control of movement.

Cholinergic: This is a system that uses acetylcholine as a neurotransmitter.

Chorea: Irregular, spasmodic, involuntary dance-like movements of the limbs or facial muscles, often accompanied by hypotonia.

Cognition: The mental process characterized by thinking, learning, memory, and judging. Any process whereby one acquires knowledge.

Cortex: Outer surface of brain associated with higher level functioning

Dementia: The loss, usually progressive, of cognitive and intellectual functions, without impairment of perception or consciousness; caused by a variety of disorders, most commonly structural brain disease. Characterized by disorientation, impaired memory, judgement, and intellect, and a shallow labile affect.

DNA: (Deoxyribonucleic acid) A double-stranded, helical nucleic acid molecule capable of replicating and determining the inherited structure of a cellís proteins.

Dopaminergic: A system in the body that uses the neurotransmitter, dopamine, to send neural messages.

Dysdiadochokinesis: Poor coordination.

Dystonia: Muscular contractions that distort the spine, limbs, hips, and sometimes the cranial-innervated muscles that usually consist of sustained twisting movements. Enzyme: A class of proteins serving as catalysts, chemical agents that change the rate of a reaction without being consumed by the reaction.

GAPDH: An enzyme that binds with huntingtin and is involves in energy metabolism.

Gene: One of the many discrete units of hereditary information located on the chromosomes and consisting of DNA.

Glucose: A simple sugar.

Glutamine: The (-amide of glutamic acid, derived by oxidation from proline in the liver or by the combination of glutamic acid with ammonia; the L-isomer is present in proteins and in blood and other tissues, and is an important source of urinary ammonia.

Gylcolysis: The energy yielding conversion of D-glucose to lactic acid in various tissues, notable muscle, when sufficient oxygen is not available.

Hallucination: The subjective perception of an object or event when no such stimulus or situation is present; may be visual, auditory, olfactory, gustatory, or tactile.

Huntingtin: The protein product that the CAG repeat produces.

In vitro: In an artificial environment, referring to a process or reaction occurring therein, as in a test tube or culture media (in glass).

In vivo: In the living body, referring to a process or reaction occurring therein (in the living being).

Metabolism: An energy producing process in the body, usually at a cellular level.

Neurodegenerative disorder: A disease that destroys and deteriorates the nervous system and related structures.

Neuron: Basic building block of the nervous system; specialized cell for integration and transmission of information.

NMDA receptor: One type of glutamate receptor critically involved in long-term potentiation. Nucleus: The center of a cell.

Parkinsonism: Characterized by rhythmical muscular tremors, rigidity of movement, festination, droopy posture, and masklike faces. There is usually a slowness and impairment in balance.

Pathogenic: Causing disease or abnormality.

Protein: A polypeptide that is made up a collection of amino acids.

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