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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]
The brain cell death eventually leads to problems with movement, thinking and behavior. Huntington’s symptoms – which include involuntary movement, unsteady gait, personality changes and impaired judgment – typically begin between the ages of 30 and 50, gradually worsening over 10 to 25 years.
Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. [5] Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage. [6]
Huntington's disease, which affects about 30,000 Americans, is a fatal, inherited disorder that causes progressive movement, psychological and cognitive problems. If a parent has it, their ...
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.
The number of trinucleotide repeats appears to predict the progression, severity, and age of onset of Huntington's disease and similar trinucleotide repeat disorders. [5] Other human diseases in which triplet repeat expansion occurs are fragile X syndrome, several spinocerebellar ataxias, myotonic dystrophy and Friedreich's ataxia. [4]
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]
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