Frontotemporal dementias(FTD): Description, Causes and Risk Factors:Alternative Name: Pick's disease.Abbreviation: FTD.FTD is an umbrella term that has been used to describe a group of rare disorders that involve shrinkage of specific areas of the brain that regulate behavior, personality, and language. Unlike Alzheimer's disease, FTD usually does not include formation of amyloid plaques.The exact cause that can result in frontotemporal dementia is not known. However, factors such as heredity and alterations in the gene structures have been suggested to be associated with this progressive brain disorder. Some cases are due to a genetic mutation, more specifically in these individuals the onset of FTD seems to occur as a result of mutations concerning the so-called Tau gene and the proteins it helps produce. These abnormal proteins accumulate in the brain and can form Pick bodies. These proteins and Pick bodies disrupt brain cell function in similar ways to the plaques and tangles found in Alzheimer's disease and the Lewy bodies found in Lewy body dementia.Many of the tau mutations exist as missense mutations within coding regions of exons. These genetic changes affect all tau isoforms, generating mutated proteins that fail to promote microtubule assembly or facilitate axonal transport. Some of the mutations also increase the propensity of the mutated tau to self-aggregate into neuro?brillary inclusions or Pick's bodies.Tau mutations devastate the neurons' ability to organize microtubule assembly and disassembly, and therefore crucially disrupt axonal transport.Investigators also identified mutations in the PGRN (progranulin) and MAPT (microtubule-associated protein tau) genes as the cause of some forms of FTD. PGRN mutations result in underproduction of a protein called progranulin, which in turn causes the dysfunction in TDP-43 associated with FTD. MAPT mutations result in dysfunction of the tau protein.In addition to PGRN and MAPT, scientists have identified mutations in two other genes - VCP (valosin-containing protein) and CHMP2B (chromatin modifying protein 2B) - that cause familial forms of FTD, and the search is underway for other related genes, as well as genes involved in sporadic, or non-familial, cases.This disorder called frontotemporal dementias with parkinsonism (FTDP) linked to chromosome 17 (FTDP-17), is much like other types of FTD but often includes psychiatric symptoms such as delusions and hallucinations.Symptoms:
Aphasia (difficulty speaking or understanding speech).
Weak, uncoordinated speech sounds.
Increased muscle tone.
In some cases urinary incontinence may present.
Diagnosis:The doctor will ask you about your medical history and symptoms, and family history. Studies have indicated that about 40% of people with FTD have a positive family history of FTD.Tests and exams may include:
Tests of sensation, thinking and reasoning (cognitive function), and motor function.
Laboratory Tests: A complete blood count, blood glucose test, urinalysis, drug and alcohol tests (toxicology screen), cerebrospinal fluid analysis (to rule out specific infections that can affect the brain), and analysis of thyroid and thyroid-stimulating hormone levels. A doctor will order only the tests that he or she feels are necessary and/or likely to improve the accuracy of a diagnosis.Imaging Tests: FTD leads to loss of brain tissue that is visible on imaging tests, such as magnetic resonance images (MRI), which are key in identifying the characteristic shrinking of the frontal and temporal lobes, located in the front of the brain. Other tests include positron emission tomography (PET), computed tomography (CT) and single photon emission computed tomography (SPECT).Treatment:Although there is still no cure or preventive intervention, some treatments - notably antidepressant medications - can help ameliorate behavioral problems resulting from FTD. Older antipsychotic medications that block dopamine may be dangerous for FTD patients because some of them have Parkinson's disease, which causes a loss of dopamine, a chemical messenger that transmits signals within the brain. Cholinesterase inhibitors — the class of drugs currently used to treat memory symptoms in Alzheimer's — do not help FTD patients.Effective treatments targeted at the disease's underlying pathology will be available. It is important that they rule out any treatable conditions, such as depression, normal pressure hydrocephalus, or vitamin B12 deficiency, which can cause similar symptoms.Social interventions, counseling, and speech/language/cognitive therapy to facilitate the use of spared functions may make the condition easier to bear for the patient, caregivers, and family members.Disclaimer: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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