The first description of a Huntington-like disease dates back to the late 1800’s where George Huntington coined the name Huntington’s chorea. It is characterized as a neurodegenerative disorder passed within families within generations as an onset of unwanted choreatic movements, behavioral and psychiatric disturbances and dementia [1]. The name Huntington’s chorea eventually changed to the well-known Huntington’s Disease (HD) due to the recognition of other debilitative symptoms developed along with chorea. In 1983 HD was linked to chromosome 4 and in 1993 the gene for HD was found [2-4]. This discovery caused a tremendous increase in medical research for HD and other HD-like diseases. At first, most research focused on treating the visible
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This repeat causes protein mis-folding and accumulation within neuronal cells. Repeats of at least 36 have been shown to cause HD or HD-like symptoms within patients [3]. This accumulation is known to be toxic and induces neurodegeneration, specifically of trigeminal motor neurons located within the cortex. This degeneration over time can eventually cause physical and psychiatric deficits.
The typical signs and symptoms of HD consist of motor, cognitive and psychiatric dysfunctions. Other symtpoms include unintended weight loss, sleep and circadian rhythm disturbances and autonomic nervous system dysfunction [X]. The mean age of onset is between 30 and 40 years. The mean duration of the disease is 17-20 years where its progression leads to more dependency in daily life and finally …show more content…
As most Huntington’s Disease patient present with choreatic movement, it is easily diagnosed by taking a family’s history, but sometimes this is not sufficient and can result in mis-diagnosis. HD has many symptoms in common with other neurodegenerative diseases such as Parkinson’s or Alzheimer’s and sometimes a differential diagnosis is not sufficient to distinguish the presence of HD. Chorea for example has been shown to be involved in other hereditary/drug-related disorders. This has led to the discovery of phenocopies of HD, where phenocopies are defined as disorders that present themselves with HD-like symptoms but fail the genetic test
This repeat causes protein mis-folding and accumulation within neuronal cells. Repeats of at least 36 have been shown to cause HD or HD-like symptoms within patients [3]. This accumulation is known to be toxic and induces neurodegeneration, specifically of trigeminal motor neurons located within the cortex. This degeneration over time can eventually cause physical and psychiatric deficits.
The typical signs and symptoms of HD consist of motor, cognitive and psychiatric dysfunctions. Other symtpoms include unintended weight loss, sleep and circadian rhythm disturbances and autonomic nervous system dysfunction [X]. The mean age of onset is between 30 and 40 years. The mean duration of the disease is 17-20 years where its progression leads to more dependency in daily life and finally …show more content…
As most Huntington’s Disease patient present with choreatic movement, it is easily diagnosed by taking a family’s history, but sometimes this is not sufficient and can result in mis-diagnosis. HD has many symptoms in common with other neurodegenerative diseases such as Parkinson’s or Alzheimer’s and sometimes a differential diagnosis is not sufficient to distinguish the presence of HD. Chorea for example has been shown to be involved in other hereditary/drug-related disorders. This has led to the discovery of phenocopies of HD, where phenocopies are defined as disorders that present themselves with HD-like symptoms but fail the genetic test