Ads
related to: huntington's disease genetic basis- About HD Chorea
Learn About Chorea & the Importance
of Treating Early.
- Cost & Coverage Support
Learn About Cost & Coverage Support
for Your Patients with HD Chorea.
- Starting Patients
Getting Your Patients Started
on Treatment for HD Chorea.
- Shared Solutions
Learn More About Teva Shared
Solutions for Your Patients.
- HD Clinical Trial Results
Review Pivotal Study Results
for Huntington's Disease Chorea.
- Polypharmacy
See Polypharmacy Info
for This HD Chorea Treatment.
- About HD Chorea
Search results
Results From The WOW.Com Content Network
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease [7] that is mostly inherited. [8] The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities. [9] [1] A general lack of coordination and an unsteady gait often follow. [2]
However, in individuals affected by Huntington's disease (an autosomal dominant genetic disorder), the polymorphic locus contains more than 36 glutamine residues (highest reported repeat length is about 250). [7] Its commonly used name is derived from this disease; previously, the IT15 label was commonly used.
This is the case for Huntington's disease, where the trinucleotide repeat encodes a long stretch of glutamine residues. When the repeat is present in an untranslated region, it could affect the expression of the gene in which the repeat is found (ex. fragile X ) or many genes through a dominant negative effect (ex. myotonic dystrophy ).
Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood. [35]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Gusella joined the faculty of Harvard Medical School in 1980, where he began collaborating with Nancy Wexler to study the genetic basis of Huntington's disease.Through linkage analysis of a large Venezuelan population of Huntington's disease kindreds, they mapped the location of the causal gene to the short arm of chromosome 4 in 1983. [4]
Ad
related to: huntington's disease genetic basis