Introduction: Magnetic resonance imaging (MRI) plays a critical role in diagnosing and monitoring people with multiple sclerosis (MS). The 2020 Portuguese Consensus on Magnetic Resonance Imaging in Multiple Sclerosis aimed to standardize MRI use. This study evaluated the implementation of the consensus in clinical practice.Methods: This is an observational, retrospective, longitudinal and multicentric study com...
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The cerebellar cognitive affective syndrome is a neuropsychiatric syndrome composed of affective (anxiety, depression, euphoria, and emotional lability) and cognitive symptoms (executive, attentional, and visuospatial deficits) that was described in the 1990s. We present the case of a 49-year-old woman with a history of an acute neurological episode at the age of 28, after which she reported a change in persona...
Objective: Epileptic seizures occur frequently after stroke due to changes in brain function and structure, and up to around 10% of stroke patients experience stroke recurrence in the first year. We aimed to establish the risk of acute symptomatic seizures in patients with recurrent stroke. Methods: Retrospective cohort study including consecutive admissions to a Stroke Unit due to acute ischemic stroke, during...
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disorder usually caused by biallelic mutations in the SMN1 gene on chromosome 5q13.2, which leads to a progressive degeneration of lower motor neurons nuclei in the spinal cord and brainstem. It is characterized by a progressive atrophy and proximal muscle weakness, with a variable degree of bulbar and/or respiratory muscle involvement, depend...
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disorder caused by biallelic mutations in the SMN1 gene on chromosome 5q13.2, which leads to a progressive degeneration of lower motor neurons nuclei in the spinal cord and brainstem. It is characterized by progressive atrophy and proximal muscle weakness, with variable degree of bulbar and/or respiratory muscle involvement, depending on the p...