“New Genes, New Dilemmas: FTLD Genetics and its Implications for Families” addresses four disease causing genes associated with a degenerative disease called frontotemporal lobar degeneration (FTLD). FTLD is the second leading cause of dementia, after Alzheimer’s disease, in people less than 65 years old. It is a syndrome that usually presents with behavioral/personality changes or a language disorder while initially leaving memory relatively intact” (Goldman, Phil, Adamson, Karydas, Miller, & Hutton, 2007, p. 207). FTLD is divided into three major clinical subtypes: behavioral variant form of frontotemporal dementia (bvFTD), semantic dementia (SD), and progressive nonfluentaphasia (PNFA). Early symptoms of one or the other will result in behavior and personality changes or loss of language comprehension. In addition, FTLD is also associated with the degeneration of the cortical basal and supranuclear palsy.
The four disease causing genes associated with FTLD are
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The 53-year-old patient was presented in a clinic with tremors, rigidity in one limb, mild gait, and speech apraxia. That individual was given a diagnosis of atypical Parkinson disease. One year later, a re-evaluation of the patient yield apraxic eye movement, postural instability, and alien limb phenomenon. Cognitive impairment was also seen upon evaluation. Magnetic resonance imaging showed atrophy in the patient’s right frontal, parietal, and temporal cortical. The individual was diagnosed with of corticobasal degeneration and the following year, the patient’s symptoms progressively worsened. The patient died about six years later and was mute one year before death. The discovery of PGRN gene, researchers concluded is associated with FTLD, however, much of the FTLD genetics remain unknown. Additional studies will be required to determine the full impact of PGRN gene on the FTLD
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
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"Parkinson Disease." Genetics Home Reference. Lister Hill National Center for Biomedical Communications, n.d. Web. May 2012. .
A small percentage of those with the disease have early-onset Alzheimer’s. Of those who have early-onset Alzheimer’s an even smaller percentage have early-onset familial Alzheimer’s, which is the development of Alzheimer’s before the age of 65 along with the existence of a close relative who has the disease. This type of Alzheimer’s usually affects people in their 40’s or 50’s and is very rare (Huether & McCance, 2012). The third and most common type of Alzheimer’s is late-onset Alzheimer’s disease. Late-onset Alzheimer’s dise...
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Think about it, an average teen in this world has just been diagnosed with a type of incurable dementia which will forever change his or her life. Frontotemporal dementia (FTD) is one of the less common forms of dementia. It is when the nerve cells in the frontal lobe die and over time the brain tissue shrinks. Frontotemporal dementia is mostly found in people who are in their teens or twenties. It can affect young people in a very negative way. They start to get aggressive and as the disease gets worse they lose friends and have a difficult time in school and understanding things. Frontotemporal dementia is a rare disease that is on the rise and affects the people of the younger generation.
Although Alzheimer’s disease appears to be the most common cause of dementia, “more than 50 conditions are associated with dementia, including degenerative ...
Memory plays a significant role in the everyday lives of people of all ages. It allows them to recall information and remember skills that were learned in the past. Memory also organizes past information to help people make current and future decisions. However, imagine forgetting the names of close family members or not having the ability to find your keys every time you want to leave the house. These are some of the struggles that people with Alzheimer’s disease face daily. Alzheimer’s disease was first identified by German neurologist Alois Alzheimer in 1906, and was discovered to have an overpowering effect on explicit memory loss (Gruetzner, 1988). There are two types of Alzheimer’s disease – early onset and late onset. Early onset occurs in patients who are diagnosed before the age of 65 whereas late onset occurs in patients who are diagnosed after the age of 65. In the early stages of Alzheimer’s disease, short-term memory is often lost. As Alzheimer’s disease progresses, problems with long-term memory begin to develop, in addition to short-term memory impairments. Although a lot is known about the symptoms of Alzheimer’s disease, the cause has not been conclusively identified. However, as research continues, new theories about the cause of Alzheimer’s disease are being proposed. This has led to a controversy over whether Alzheimer’s disease is caused by genetics or environmental influences (Gruetzner, 1988).
Parkinson disease (PD), also referred to as Parkinson’s disease and paralysis agitans, is a progressive neurodegenerative disease that is the third most common neurologic disorder of older adults. It is a debilitating disease affecting motor ability and is characterized by four cardinal symptoms: tremor rigidity, bradykinesia or kinesis (slow movement/no movement), and postural instability. Most people have primary, or idiopathic, disease. A few patients have secondary parkinsonian symptoms from conditions such as brain tumors and certain anti-psychotic drugs.
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Alzheimer’s disease comes from the last name of a neuro-psychiatrist from Germany, Alois Alzheimer. The disease was first diagnosed when a woman in her early fifties began experience memory problems. “Alzheimer recounted the now famous case of ‘Auguste D.’ a 51-year-old housewife who had been failing mentally for several years. As a result she had been admitted to his care in the Asylum for the Insane and Epileptic…” (Maurer and Maurer 1). After her death, he continued to examine her brain to find causes and explanations for her behavior. He discovered “…classic neuro-pathological signs of plaques and tangles” (Maurer and Maurer 1). “Plaques are chains of amino acids that are pieces of the amyloid precursor protein…tangles are aggregates of the protein tau” (Secko 1). As plaques develop they produce tangles and “these two abnormalities ultimately lead to loss of cognitive function” (Secko 1) Alois Alzheimer’s research has allowed many specialist to conclude that the apolipoproetein E gene may contribute to the disease.
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Goldmann, David R., and David A. Horowitz. American College of Physicians Home Medical Guide to Parkinson's Disease. New York: Dorling Kindersley Pub., 2000. Print.
Frontotemporal dementia is the term used for progressive syndromes associated with atrophy of the temporal and frontal lobes (Hodges, 2007) and is the second most common cause of young onset dementia (Ratnavalli et al. 2002).
Most signs and symptoms of Parkinson disease correspond to one of three motor deficiencies: bradykinesia, akinesia, tremor, and rigidity. The first two qualities are usually present before tremor, but often attributed to aging by the patient and even the physician, and thus the disease is rarely diagnosed until tremor becomes evident much later. An average of 80% of the nigrostriatal neurons may have already degenerated by the time Parkinsonism is diagnosed, which complicates treatment (Fitzgerald, 130). Bra...