6 documents found, page 1 of 1
Discriminative capacity and construct validity of the Clock Drawing Test in Mil...
Duro, D; Freitas, S; Tábuas-Pereira, M; Santiago, B; Botelho, MA; Santana, IOBJECTIVES: The aim of this study was to analyze the psychometric and diagnostic properties of the Clock Drawing Test (CDT), scored according to the Babins, Rouleau, and Cahn scoring systems, for Mild Cognitive Impairment (MCI) and Alzheimer's disease (AD) screening, and develop corresponding cutoff scores. Additionally, we assessed the construct validity of the CDT through exploratory and confirmatory factor a...
Downbeat nystagmus elicited by eyelid closure
Lemos, J; Pereira, D; Amorim, M; Santiago, B; Paiva, A; Cunha, LWe describe a patient with downbeat nystagmus (DBN) evoked only by eye closure. Brain and spinal cord magnetic resonance imaging revealed a T2 paramedian lesion in the left lower basis pontis and other white matter lesions consistent with multiple sclerosis. One potential mechanism for DBN in this case involves transverse ephaptic spread of excitation from areas that subserve coordinated lid closure to the decu...
Epidermal nevus syndrome: an unusual cerebellar involvement
Pereira, S; Serra, D; Melo Freitas, P; Santiago, B; Brito, OThe epidermal nevus syndrome is characterized by several developmental anomalies associated with an epidermal nevus. In addition to the skin, other organs commonly affected include the brain, eyes and musculoskeletal system. We report here on a 24-year-old woman with this syndrome who presented with hemifacial hypertrophy, hearing abnormalities, arrhythmia and an unusual infratentorial brain involvement.
Mitochondrial DNA Variants in a Portuguese Population of Patients with Alzheime...
Grazina, M; Silva, F; Santana, I; Pratas, J; Santiago, B; Oliveira, M; Carreira, I; Cunha, L; Oliveira, CRAlzheimer's disease (AD) is the most common neurodegenerative disorder associated with dementia in late adulthood. Mitochondrial respiratory chain impairment has been detected in the brain, muscle, fibroblasts and platelets of AD patients, indicating a possible involvement of mitochondrial DNA (mtDNA) in the etiology of the disease. Several reports have identified mtDNA mutations in AD patients, but there is no...
Frontotemporal dementia and mitochondrial DNA transitions
Grazina, M; Silva, F; Santana, I; Santiago, B; Mendes, C; Simões, M; Oliveira, M; Cunha, L; Oliveira, CRFrontotemporal dementia (FTD) is the second most common type of primary degenerative dementia. Some patients present an overlap between Alzheimer's disease (AD) and FTD both in neuropathological and clinical aspects. This may suggest a similar overlap in physiopathology, namely an involvement of mitochondrial DNA (mtDNA) in FTD, as it has been associated to AD. To determine if mtDNA is involved in FTD, we perfo...
Apolipoprotein E epsilon4 allele is a risk factor for Alzheimer's disease: the ...
Fernandes, MA; Oliveira, CR; Oliveira, LM; Nogueira, AJ; Santiago, B; Santana, I