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From the DNA Learning Center at Cold Spring Harbor Laboratory Definitions
provided by the National Institutes of Health
GLOSSARY
(Definitions of words describing genetic disorders and
birth defects.)
How to Translate Medical Terms
into Understandable English
There are simple words, called root words, that describe simple
objects or processes. To describe something more complex, another root word is often added in front of it (a prefix) or following
it (a suffix). To decypher or translate a term into plain English, it must first be broken down into individual Latin words.
This can be done with the section on "Prefixes, Suffixes, and Root Words" found on above site.
Other Problems or Diseases to be Considered
Huntington's Disease, 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
8 CAG Repeat Expansion Disorders
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. Source: Molecular Pathogenesis of Huntington's disease |
Differential
diagnosis includes hepatocerebral degeneration, schizophrenia
with tardive dyskinesia, other chorea's, and drug reactions.
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'. |
