The etiology of Parkinson's disease (PD) remains in a certain part unknown. Both genetic susceptibility and environmental factors are sometimes considered to be putative contributors to its origin. Recent epidemiologic studies have focused on the possible role of environmental risk factors present during adult life or aging, once pure genetic forms of PD are rare. The purpose of this study was to investigate po...
Frontotemporal dementia (FTD), although less common than Alzheimer's, constitutes a significant percentage of the degenerative dementias, making up 8 to 17% of patients who die with dementia before the age of 70. Several clinical presentations have been described for many authors, which are included in classical behaviour disorder of frontal lobe dementia and in language alterations of progressive aphasias. Cla...
Parkinson's disease is a progressive degenerative disease of the central nervous system frequently becoming motor disabling. Deep brain stimulation is one more therapeutic option. The authors describe the different steps of this therapeutic procedure with detail on imaging protocol to the precise and exact targeting of subthalamic nucleus. MR and CT imaging on stereotactic conditions are the imaging support to ...
Huntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic te...
O Questionário de Avaliação da Sobrecarga do Cuidador Informal (QASC)I é um instrumento construído para avaliar a sobrecarga física, emocional e social do cuidador informal (CI) de doentes com sequelas de AVC. O presente estudo descreve a construção e a determinação das características psicométricas deste instrumento. Através de uma amostra de conveniência foram estudados 210 CI e respectivos familiares alvo do...
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