Huntington Disease Research Paper
Huntington disease
Background, Etiology, & Epidemiology In the late 19th century, a physician by the name of George Huntington published the first paper detailing the clinical presentation of a neurological disorder that would come to bear his name. Although Huntington was the first to suggest genetic transmission of Huntington disease (HD), it wasn’t until 1993 that the specific mutation responsible for this disease was discovered.1 Huntington disease is an autosomal dominant disorder caused by a gene mutation, specifically the protein known as huntingtin. This mutation is a result of an unsteady spread of trinucleotide repeats, specifically CAG, located on chromosome 4p.1,2 The main risk factor for Huntington disease is family origin. The …show more content…
Individuals who present with clinical features highly suggestive of HD, or those individuals with confirmed history of HD in their family may opt to undergo genetic testing in order to confirm the disease. As stated earlier, the gene mutation for Huntington disease is located on chromosome 4p and confirmation involves analyzing the spread of GAG repeats. 1,2 A 1997 study by Brinkman, Mezei, Theilmann J, et al references the 1994 Huntington Study Group which defined the ranges for CAG repeats length in suspected individuals. Those with repeat length less than 30 are considered normal, or negative, while those greater than 38 are considered positive, or high risk for development of symptoms in the future. CAG repeated length does not guarantee an individual will develop symptoms, but studies have shown that CAG repeats can be used to predict when symptoms might occur in a patient’s …show more content…
Certain physical findings, as discussed earlier, may involve motor dysfunctions like the varying degrees of chorea. Findings suggestive of early HD could be simple restlessness or standing rigidly, unable to maintain one’s posture.1 Patients suffering from a more progressed form of the disease may experience exaggerated, involuntary movements of their limbs and wild, uncontrollable facial expressions. Other motor dysfunctions noticed on physical exam can be jerky eye movements, or unsteady walking.1,2 Cognitive and behavioral dysfunctions may also be found during physical examination. Huntington patients may express depressive or irritable moods. As the disease progresses, dementia may be observed in patients with chronic HD. They might start out forgetting simple facts or struggle to recall recent
Background, Etiology, & Epidemiology In the late 19th century, a physician by the name of George Huntington published the first paper detailing the clinical presentation of a neurological disorder that would come to bear his name. Although Huntington was the first to suggest genetic transmission of Huntington disease (HD), it wasn’t until 1993 that the specific mutation responsible for this disease was discovered.1 Huntington disease is an autosomal dominant disorder caused by a gene mutation, specifically the protein known as huntingtin. This mutation is a result of an unsteady spread of trinucleotide repeats, specifically CAG, located on chromosome 4p.1,2 The main risk factor for Huntington disease is family origin. The …show more content…
Individuals who present with clinical features highly suggestive of HD, or those individuals with confirmed history of HD in their family may opt to undergo genetic testing in order to confirm the disease. As stated earlier, the gene mutation for Huntington disease is located on chromosome 4p and confirmation involves analyzing the spread of GAG repeats. 1,2 A 1997 study by Brinkman, Mezei, Theilmann J, et al references the 1994 Huntington Study Group which defined the ranges for CAG repeats length in suspected individuals. Those with repeat length less than 30 are considered normal, or negative, while those greater than 38 are considered positive, or high risk for development of symptoms in the future. CAG repeated length does not guarantee an individual will develop symptoms, but studies have shown that CAG repeats can be used to predict when symptoms might occur in a patient’s …show more content…
Certain physical findings, as discussed earlier, may involve motor dysfunctions like the varying degrees of chorea. Findings suggestive of early HD could be simple restlessness or standing rigidly, unable to maintain one’s posture.1 Patients suffering from a more progressed form of the disease may experience exaggerated, involuntary movements of their limbs and wild, uncontrollable facial expressions. Other motor dysfunctions noticed on physical exam can be jerky eye movements, or unsteady walking.1,2 Cognitive and behavioral dysfunctions may also be found during physical examination. Huntington patients may express depressive or irritable moods. As the disease progresses, dementia may be observed in patients with chronic HD. They might start out forgetting simple facts or struggle to recall recent