Dyskinesia Case Study

Tardive dyskinesia is a persistent movement disorder that can result from a prolonged use of antipsychotics and is more prominent with the use of atypical antipsychotics. My preceptor decided to start the patient on Clozapine because of its effectiveness with previous clients that had tardive dyskinesia. According to my preceptor, Clozapine has shown signs of minimizing symptoms of tardive dyskinesia. Treatment did not start immediately as the patient had to get baseline labs, which included absolute neutraphil count, blood glucose, and lipid levels. Patient's weight, height, and BMI were also obtained. AIMS scale was not used with this patient as it does not include tremors. Effectiveness was based on the patients subjective account, and physical observation. Clozapine was started at a low dose and titrated up to 125mg PO QHS. Patient is getting weekly lab work for absolute neutraphil count. To date, there is no sufficient data available that suggests a cure for this movement disorder. However, the question is, among adults, what available treatments have shown the greatest effectiveness in minimizing the symptoms of tardive

Identified as LRRK2, this gene mutation only accounts for one to two percent of all cases of Parkinson’s disease. (Michael J. Fox Foundation)

These people with are born with a mutated copy of the PKD1 (85% of cases) or PKD2 (15% of cases) gene in each cell and this mutated gene is inherited from one of their affected parents in about 90% of the time. The other 10 percent of cases result from new mutations in people with no history of the disorder in their family. This is known as acquired polycystic kidney disease. The PKD1 gene is located on chromosome 16 and PKD2 gene is located on chromosome 4. Not only are there mutations in the DNA of these genes but there may also be large deletions that remove sometimes up to 10 genes.

Kelly is experiencing postconcussive symptoms of irritability and concentration deficits, even though she had no brain trauma. Kelly is at risk environmentally of ASD because she sees her attackers on daily basis at school and if she out in public. Kelly has no cultural experiences related to her diagnosis. She is experiencing several dissociative symptoms such as; nightmares, avoidance of social groups and panic attacks. She is currently not experiencing any somatic symptoms.

PKU, also known as Phenylketonuria, is a genetic disorder that builds up the amino acid phenylalanine in the human body. This genetic disorder is known to be an example of the norm of reaction. The norm of reaction defines itself as a phenotype range that a person with a certain genotype reveals due to the differing of a certain environmental condition. Since this genetic mutation targeted the gene that encrypts the enzyme phenylalanine hydroxylase, it shows that if a person has one and/or two copies of that certain gene, that person would have the ability to eat and metabolize foods with phenylalanine. But, if a person has two copies of the mutated gene, they wouldn’t be able to eat nor metabolize foods with phenylalanine because if a person with PKU were to ingest foods with phenylalanine, the amino acid will accumulate in their body and become highly toxic to the person and the PKU homozygotes will lead to an assortment of detrimental symptoms, which currently occurs in about 1 in 10,000 babies.

Phenylketonuria, or PKU, is an autosomal recessive, heritable disease that decreases levels of the enzyme phenylalanine hydroxylase, which is responsible for the metabolism of the amino acid phenylalanine, resulting in an unhealthy buildup that can lead to brain damage, seizures, and intellectual disability. While not curable, PKU, if detected early on, can be treated to allow sufferers to lead full and healthy lives. The symptoms of PKU appear almost immediately after birth, requiring parents and hospitals to make the necessary preparations, including feeding infants with special formula. Lack of such care can result in

A dysfunction of an enzyme in the peroxisome leads to the accumulation of very long-chain fatty acids (VLCFA) in several areas (several areas of what?) including the central nervous tissue(CNS). The accumulation of VLCFA is toxic leading to the death of neuroglial cells like the oligodendrocytes and astrocytes. Astrocytes in normal conditions regulate the composition of the blood-barrier in the central nervous system; The olygodendorocytes form the myelin sheath that covers the axons and facilitate the effective propagation of action terminals from the neuron to the target cells (Amerman 390). This disorder (what disorder) is caused by a mutation in the ABCD1 gene of the X-chromosome, it causes the demyelination of the neurons in the CNS inhibiting the integration of the information from sensory stimuli and the proper response to them, causing eventually death. X-linked disorders are present are a wide variety of phenotypes, CCALD is the most common and presents only on boys between the age of 4 and 12. CCALD is a rapidly progressive disease, its deteriorates the patient health in a matter of years, and due to its complexity, its commonly misdiagnosed (Engelen).

Approximately 1 in 10,000 caucasian babies are born with PKU (Baulny, 2007). In order for a person to inherit phenylketonuria, the mother and father both must have and pass down the defective gene. The parents of someone afflicted by this disease may have the gene but not have PKU. This parent would

Phenylketonuria is an uncommon metabolic genetic disorder that is caused by a mutation in the phenylalanine hydroxylase (PAH) gene. The PAH gene is located on the long arm of chromosome 12, specifically at location 23.3, and is responsible for the conversion of the amino acid phenylalanine to tyrosine. The mutated PAH gene associated with phenylketonuria is caused by an autosomal recessive disorder. Autosomal recessive disorders result when two copies of an atypical recessive gene are passed on to an offspring, meaning both the mother and father carry the abnormal PAH (p) gene. Although the parents themselves may not have the disease, the offspring that results from two recessive carriers is positive for PKU and has the genotype pp. An

Two thirds of patients who suffer from stroke develop TLE. The proposed study will test whether the pathology of PTEN Knockout cells is a primary driver for TLE or merely a secondary change following seizures. Additionally, we will characterize the different natural and extraneous cell changes that occur within a genetic model of an epileptic animal. This will ultimately help delineate mechanisms by which temporal lobe epilepsy develops. This will guide creating treatment and intervention for patients with post-stroke

PKU is a genetic condition that is passed down to the infant by both parents who are both carriers of the recessive gene. There is no cure. Because the body cannot break down the phenylalanine, it builds up in the body and, if left untreated, can cause CNS and mental damage.

The prion protein (PrP) is unusual in that it has two stable isoforms. The cellular or normal form of the prion protein is termed PrPC, while the disease form is termed PrPSC. Sharing the same sequence of amino acids, or primary structure, PrPC and PrPSC differ in their secondary, tertiary, and quaternary structures. The normal prion protein has N- and C-terminals, three alpha helices, and two beta sheets (Soto, 2006, 40). Its function is still not completely understood. However, scientists have found evidence that point to various possibilities. 1) Because most PrPC are located in lipid rafts, membrane structures involved in signaling, it is suggested that PrPC may also be a mediator in neuroprotective signaling pathways. 2) Interaction between PrPC and Bcl-2, a ligand involved in protecting neurons from apoptosis, suggests the possibility that PrPC may be an antiapoptotic protein. 3) PrPC has also been linked to copper metabolism in the brain. In one particular study, PrP knockout mice, or mice that were genetically altered to not express PrP, were found to have lower levels of copper in their brains and higher levels in their serum (Soto, 2006, 42). However, in other studies with PrP knockout mice, most of the animals did not display any obvious disorders, and those that did were found to have been affected by the increase in concentration of another protein known as doppel.

Once the MEPC2 gene was implicated in RTT there was an intense period of cohort screening in an attempt to elucidate genotypic-phenotypic associations (Weaving, 2005). As it stands there are an approximate 800 pathogenetic mutations that are currently found within the MEPC2 (Cheadle, 2000). These include missense, nonsense, frame shifts and inversions as well as large deletions which have now been identified as being present in 15% of apparently MECP2 mutation negative individuals. These large deletions would have gone undetected without the application of NGS techniques (Weaving, 2005). Work by Wolffe aimed to explore the associations between the type of MECP2 mutation and the degree of phenotypic severity. While work in this area is largely conflicted his study was concurrent with previous work concerning the view that particular mutations that were either point mutations, such as p.Arg133Cys, p.Arg294X, p.Arg306Cys and 3’ truncations resulted in a reduction in the severity of symptoms. There is also a wide consensus that missense mutations produce a less acute phenotype than nonsense mutations and that the most severe clinical features were the consequence of splice sites or large insertions or deletions (Weaving, 2005). The MEPC2 gene codes a protein, which is apart of the methyl-CpG-binding family. It contains three conserved functional domains. Work by Wolffe also examined which aspects of the protein were affected by each type of mutation. He found that Nonsense

Neurexins (NRXN) are a family of synaptic adhesion proteins that are located on the presynaptic membrane and bind to their postsynaptic partners, neuroligins (NLGNs). The NRXN family consists of three genes (NRXN1, NRXN2, and NRXN3) and rare copy number variations and/or point mutations in NRXN genes have been repeatedly identified in ASD diagnoses (Autism Genome Project et al, 2007; Bremer et al, 2011; Feng et al, 2006; Yangngam et al, 2014). In addition to being associated with ASDs, NRXN1 deletions have been reported in other psychiatric conditions, such as schizophrenia, bipolar disorder, ADHD, and Tourette syndrome (Guilmatre et al, 2009; International Schizophrenia, 2008; Lionel et al, 2011;

The phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) gene is one of the most commonly implicated genes in human cancer.32, 40-45 The PIK3CA gene is located on the long (q) arm of chromosome 3 at position 26.3 (3q26.3).46 The PIK3CA gene provides information for making the p110α (p110 alpha) protein, which is the catalytic subunit of the PI3K (phosphatidylinositol 3-kinase) enzyme.(13) This is an important enzyme in the PI3K pathway.46 The PI3K pathway is essential for several cellular activities such as cell metabolism, cell survival, cell growth, and proliferation. 42,46 The PI3K enzyme phosphorylates PIP2 (Phosphatidylinositol-4,5-biphosphate) to PIP3 (Phosphatidylinositol-3,4,5- triphosphate) through a process termed phosphorylation46