Joana Mesquita Guimarães

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The medial basotemporal lobes (hippocampus, amygdala, parahippocampal gyrus) are considered to be parts of the system responsible for nonvolitional facial movements. In patients with temporal lobe epilepsy, lower facial weakness during emotional expression has been found to occur almost exclusively contralateral to the temporal lobe with the epileptogenic(More)
Chronic bilateral subthalamic stimulation (DBS-STN) provides considerable clinical benefits in Parkinson disease patients, with improvement in primary symptoms and resolution of side effects of chronic pharmacological treatment. Apart from its therapeutic effects on PD symptoms, DBS-STN also appears to induce weight gain, which may itself induce critical(More)
A 23-year-old man with a clinically isolated syndrome (right optic neuritis) diagnosed 6 months before, presented with recurrent, brief, painful, stereotyped, involuntary posturing movements of the left upper limb. The neurological examination was otherwise unremarkable (except for right optic atrophy). Intravenous methylprednisolone was initiated; the(More)
Changes in the nutritional profile of patients with Parkinson's disease have been reported before and after deep brain stimulation surgery. The major determinants of the weight variation in Parkinson's disease are not yet understood, and the mechanism seems complex. Based on the influence of the sympathetic nervous system in metabolic syndrome obesity, the(More)
Sensory ataxia with neuropathy, dysarthria and ophthalmoparesis represent the clinical triad of SANDO, a specific mitochondrial phenotype first reported in 1997 in association with multiple mitochondrial DNA deletions and mutations in POLG1 or more rarely in the C10orf2 (twinkle-helicase) gene. We report a 44-year-old man with SANDO who harboured two novel(More)
INTRODUCTION In Parkinson's disease (PD) weight loss is a secondary phenomenon to the progressive neurodegeneration that changes after deep brain stimulation of the subthalamic nucleus (DBS-STN) leading to increased weight gain. The mechanism responsible for this profile in weight variation may be secondary to a central metabolic control influenced by the(More)
BACKGROUND Tumor-associated trypsin inhibitor (TATI) is mainly proposed as a tumor marker for ovarian cancer. However, recent discoveries of TATI in cancer and inflammatory diseases show that assay of TATI in biological samples is of increasing interest. METHODS We validated a previously described TR-IFMA and a newly developed dual-monoclonal sandwich(More)
BACKGROUND Progranulin (PGRN) mutations are associated with different clinical phenotypes, including frontotemporal lobar degeneration (FTLD), corticobasal syndrome (CBS) and Alzheimer's disease (AD). As all pathogenic PGRN mutations identified so far cause disease through haploinsufficiency, determination of PGRN levels has been proposed as a reliable(More)