Actually this list is too long to include in this website so the information has been
placed on another site and linked here. You can print out the definitions: Clinical Descriptions~Symptoms
I started the accumulating these definitions
which are sometimes used
to describe symptoms of/or tests for HD or discuss other diseases or condition which have symptoms similar to Huntington's
Disease.
So pour a cup of coffee and sit a spell while you read through these. Many explain the explicit
terminology for a symptom of HD your loved one may be experiencing, like ataxia, chore, dysarthria etc. which would be
helpful for you to know when speaking with physician's and therapist in describing a particular problem.
Symptoms
Scientific/Technical
Testing
Drug
Other diseases
similiar to HD
Huntington disease, Huntington's disease, HD, Huntington's chorea, HC Authored by J Stephen
Huff, MD, Associate Professor of Emergency Medicine and Neurology, Department of Emergency Medicine, University of Virginia
Health System Source: Hereditary nonprogressive chorea
- Neuroacanthocytosis
- Wilson disease
- Ataxia-telangiectasia
- Lesch-Nyhan syndrome
- Hallervorden-Spatz disease
- Fahr disease
- Sydenham chorea
- Drug-induced movement disorder
- Chorea gravidarum
- Hyperglycemic nonketotic encephalopathy
- Hemichorea/hemiballism with subthalamic nucleus lesion
- Periarteritis nodosa
- Senile chorea
- Essential chorea
- Parkinson disease
- Alzheimer disease
- Creutzfeldt-Jakob disease
- Pick disease
- Bipolar disorder
- Alcoholism
- Antisocial personality disorder
- Huntington Chorea
To date, eight such inherited neurological disorders have been identified to be caused by CAG
repeat expansion in their respective genes;
- Huntington's Disease
- Dentatorubral pallidoluysian atrophy (DRPLA)
- Spinobulbar muscular atrophy (SBMA)
- Spinocerebellar ataxia types 1, 2, 3, 6 and 7
- (SCA1, SCA2, SCA3, SCA6 and SCA7).
These diseases share certain features, which include neurodegeneration, a dominant pattern
of inheritance and genetic anticipation. The CAG trinucleotide repeats in all these genes are found in the coding region and
is translated into a string of polyglutamines.
Despite the widespread tissue distribution of the transcript and protein for each of these
genes, the affected region is primarily the brain and the regions of neuronal loss are highly selective and specific for any
of these diseases.
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From the DNA Learning Center at Cold Spring Harbor Laboratory Definitions provided by the National
Institutes of Health
Adenine: One of the four bases that make up DNA. Abbreviated with an 'A'.
Base:
A small molecule inside the larger molecule of DNA. Bases - A, C, G, and T - are arranged in line in a DNA molecule (e.g.
CGGTACAGG) and encode instructions for making proteins.
CAG: Triplet codon that codes for glutamine. The number
of CAG repeats is
higher in the IT-15 gene of people with Huntington.
Chromosome: Chromosomes are packages
of DNA found in the nucleus of cells. Humans have 46 chromosomes.
Codon: Three letters of bases in a gene that
encode the type of amino acid to be placed in the protein. For example, the codon G-T-G signifies the amino
acid valine.
Cytosine: One of the four bases that make up DNA. Abbreviated with a 'C'.
DNA:
Short for deoxyribonucleic acid, DNA is the molecule that carries genetic information.
Dominant: A genetic trait
or disorder is dominant when only one copy of the
mutated gene is necessary for the trait to develop. A recessive trait or disorder develops when two
copies of the mutated gene are inherited.
Enzyme: Protein that helps other chemical reactions in the body proceed.
Exon:
A section of a gene that contains the instructions for making a protein.
Gel: Hard Jello-like substance that
scientists use to measure the size of DNA
fragments during DNA diagnostic tests.
Gene: A portion of DNA that contains instructions
for making a protein.
Genotype: The genetic composition of a person. Usually used when considering one gene
or chromosome (e.g., males have a XY genotype, females have a XX).
Glutamine: One of 20 amino acids. People
with Huntington have more glutamines in the huntingtin protein because of the increased number of CAG repeats.
Guanine:
One of the four bases that make up DNA. Abbreviated with a 'G'.
Huntingtin: The protein made by the IT-15 gene.
People with Huntington have a huntingtin protein with more glutamines.
Intron: A section of a gene that does
not contain any instructions for making a protein. Introns separate exons -- the coding sections -- from each other.
Mutation:
A change in the genetic code (the A's, C's, G's and T's) of a gene.
PCR/Polymerase chain reaction: A method
to increase or amplify specific sections of DNA. This method can be used to detect changes in genes that cause genetic disorders.
Primer:
A small DNA molecule used to perform PCR.
Protein: A type of molecule produced by the body. The instructions
for producing proteins reside in the genes.
Punnett square: A method of showing the potential offspring of two
parents.
Recessive: Refers to genetic disorders in which a person must have two copies of the mutated gene to
develop the disorder.
Thymine: One of the four bases that make up DNA. Abbreviated with a 'T'.
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