Other less common causes of dementia may include depression, head injuries, alcohol misuse, brain tumours, infections of the brain such as HIV, Strokes, or lack of Vitamin B in the diet. These causes of dementia can be treatable or non progressive or in some cases reversible such as vitamin deficiencies or thyroid problems. Rarer causes of dementia include Huntington’s disease, or progressive supranuclear palsy. 1.2 The different types of memory impairments commonly experienced by individuals with dementia include thought impairment such as storing and retrieving memory problems, calculation, spelling, planning and organising. Many people can also have difficulty with day to day tasks.
Loss of SMN1 gene results in loss of function of specific proteins required for RNA processing. This abnormal RNA processing seems to have a toxic effect on the lower motor neurons and results in their progressive degeneration in the spinal cord and also in the brainstem motor nuclei of cranial nerves 5,7,9 and 12. Werdnig-Hoffman paralysis or SMA type I can also be related to / can also cause congenital heart defects in severe cases. Studies have shown that patients with a single SMN2 copy, have higher incidence of getting an atrial septal defect (ASD) or ventricular septal defect (VSD). Patients with only 2 copies of SMN2, have higher incidence of getting minor cardiac anomalies including patent foramen ovale (PFO) and patent ductus arteriosus (PDA).
The cause of the brain cells dying and the deterioration of the connectors is not fully known. Vascular dementia is a form of dementia caused by damage to the brain through deprivation of oxygenated blood. Causes are preventable and include high blood pressure, heart problems, diabetes and high cholesterol. Rarer forms of dementia are Creutzfeldt-Jakob disease (CJD) and Biswanger’s disease. 1.2 Types of memory impairment Whilst long term memory loss is experienced, short term memory loss can cause more problems, although it is not the same in every case.
This abnormality causes red blood cells to become rigid, sticky, and misshapen. The gene is passed from one generation to another in a pattern called autosomal recessive inheritance. Which means both parents must pass on the defective form of this gene in order for a child to be affected. One parent may pass this gene on to a child resulting in having the sickle cell trait. This is where they have one normal gene and one defective gene causing them to make both normal hemoglobin and sickle cell hemoglobin.
Canavan disease is rare genetic neurological disorder characterized by the spongy degeneration of the white matter in the brain. Affected infants may appear normal at birth, but usually develop symptoms between 3-6 months of age. Symptoms may include an abnormally large head (macrocephaly), lack of head control, severely diminished muscle tone resulting in "floppiness," and delays in reaching developmental milestones such as independent sitting and walking. Most affected children develop life-threatening complications by 10 years of age. Canavan disease occurs because of mutations in the aspartoacylase (ASPA) gene that affects the breakdown (metabolism) of the N-acetylaspartic acid (NNA).
Fragile-X Syndrome There are many different types of genetic diseases living and hiding inside human beings. Some might even be carriers of the genes of a genetic disease without knowing it. Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. Fragile X Syndrome is caused by a mutation of FMR1, a single gene located on the X chromosome. The mutated FMR1 gene is silenced, blocking expression of the fragile X mental retardation protein (FMRP) that is needed for normal brain development.
Dangerously Thin: A Case Study on the Genetic Code 1. Through genetic testing Henry was discovered that that both of his CYP2C9 genes contain a mutation. The CYP2C9 gene has the responsibility for breaking down many of the drugs currently in use. In the case of Henry since both sets of his CYP2C9 genes contain a mutation, his body doesn’t have the ability to the break down prescribed drugs and could easily overdose on it. 2.
But the Surgeon General also reports that in some cases, hypokinetic disease can be drastically reduced or even eliminated through exercise and lifestyle modification. While this sounds simple, it may actually be quite complex for individuals with chronic disease and disabilities. Hypokinetic Disorders The major types of hypokinesias are akinesia, hypokinesia, bradykinesia and rigidity. The hypokinetic diseases are sometimes referred to as akinetic-rigid syndromes, and are often labeled as parkinsonisms, since they
Tay-Sachs Tay-Sachs disease is an autosomal recessive genetic disorder. It is commonly found in children and causes progressive destruction of the central nervous system. Tay-Sachs occurs when there’s an absence of a vital enzyme called hexosaminidase(Hex-A). It is caused by mutations in a gene on chromosome 15 that codes foe Hex-A. Without Hex-A, large harmful quantities of a lipid known as gangliosides (GM2) builds up in the nerve cells of the brain.
Because the hypothalamus is not doing its responsibility the individual will never have the feeling of being full. There are three forms of Prader-Willi Syndrome. Paternal deletion is the most common form. This involves 70% of PWS cases. In this form the normal inherited 15th chromosome from the father is missing and is considered deleted (Prader-Willi Syndrome Association).