Huntington's Disease Analysis
Introduction
The purpose of this paper is to give a description of Huntington’s disease (HD) causes, pathophysiology and clinical manifestations. This paper will specifically focus on Huntington’s disease pathophysiology. Huntington’s disease is an autosomal dominant, neurodegenerative disease that attacks a person’s motor, cognitive and behavioral functioning (Bordelon, 2013). Huntington’s disease is also referred to as Huntington’s chorea due to the progression of uncontrollable dance movements. Chorea is said to be the clinical hallmark of Huntington’s disease (Bordelon, 2013). Huntington’s disease is said to be one of the worst genetic diseases because the disease is fatal and many people don’t know they have it until they are in mid-life. This phenomenon is referred to as age-dependent penetrance (Jorde, 2014). A person has a 50% chance of developing the disease in middle life if they have a parent …show more content…
Huntingtin is said to play a role in axonal and vesicular transport, endocytosis and postsynaptic signaling. These are all important functions of cell survival (2013). According to Boss & Huether (2014) huntingtin gene expression produces tangles of proteins and glutamine chains on abnormal adhering molecules. It is theorized that excitotoxic pathways produced by mutated huntingtin protein mediated by glutamate function may also produce dopaminergic dysregulation (Boss & Huether, 2014). The principle biochemical alteration of HD according to Boss & Huether (2014) is basal ganglia and nigral loss of GABA. GABA is an inhibitory neurotransmitter. The nigral loss of GABA depletion causes an excess amount of dopaminergic activity within the basal feedback cortex. This excess of dopamine in the basal ganglia circuit manifests movements such as chorea (p.
The purpose of this paper is to give a description of Huntington’s disease (HD) causes, pathophysiology and clinical manifestations. This paper will specifically focus on Huntington’s disease pathophysiology. Huntington’s disease is an autosomal dominant, neurodegenerative disease that attacks a person’s motor, cognitive and behavioral functioning (Bordelon, 2013). Huntington’s disease is also referred to as Huntington’s chorea due to the progression of uncontrollable dance movements. Chorea is said to be the clinical hallmark of Huntington’s disease (Bordelon, 2013). Huntington’s disease is said to be one of the worst genetic diseases because the disease is fatal and many people don’t know they have it until they are in mid-life. This phenomenon is referred to as age-dependent penetrance (Jorde, 2014). A person has a 50% chance of developing the disease in middle life if they have a parent …show more content…
Huntingtin is said to play a role in axonal and vesicular transport, endocytosis and postsynaptic signaling. These are all important functions of cell survival (2013). According to Boss & Huether (2014) huntingtin gene expression produces tangles of proteins and glutamine chains on abnormal adhering molecules. It is theorized that excitotoxic pathways produced by mutated huntingtin protein mediated by glutamate function may also produce dopaminergic dysregulation (Boss & Huether, 2014). The principle biochemical alteration of HD according to Boss & Huether (2014) is basal ganglia and nigral loss of GABA. GABA is an inhibitory neurotransmitter. The nigral loss of GABA depletion causes an excess amount of dopaminergic activity within the basal feedback cortex. This excess of dopamine in the basal ganglia circuit manifests movements such as chorea (p.