2018, Number 6
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ABSTRACTFrontotemporal lobar dementia is a group of neurodegenerative diseases with clinical, physiopathological and anatomopathological particular characteristics. They are a challenge, and there is not enough advance in how to avoid them, how to make an early diagnosis, how to stop the progression and how to give them a specific treatment. Now our limit is only to give an elegant diagnosis with a hopeless prognosis. This dementia starts in younger than 65-year-old. The principal clinical characteristics are behavioral and language manifestations that define and classified this problem clinically. The proteinopathies involved are p-Tau, TDP-43, and FUS. The genetic mutations are related to the tau gene (MAPT), the progranulin gene, especially the C9orf72 and others. The image is frontotemporal lobar atrophy that we can follow out with computed tomography scan or magnetic resonance imaging (MRI) of the brain. With some specific MRI, SPECT or positron emission tomography functional studies are possible to determinate the characteristic patterns of abnormalities of the different subtypes of discrete fourier transform (DFT). Accumulation of tau is visible by image and specific changes in grey and white matter in the different subtypes of DFT. There is not a specific treatment; we use symptomatic drugs for cognition, depression, psychosis, seizures, sleep disorders, loss in the continence of the emotions, trying to improve the quality of life of the patient and help to the family and the caregiver in the manage. To find new and more ways to make an early diagnosis is the beginning of find possibilities for prevention. Our research group is proposing the study of the skin on affected patients looking for the presence of the same proteinopathies in the skin that is present in the brain. With this technique, there can be the possibility not only to support the diagnosis but also understand the pathophysiology, and inclusive evaluate the therapeutic answer.
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