Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia.

Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder that affects upper and lower motor neurons. SOD1 mutations are the second most commonly found in familial and sporadic cases. We describe a patient with a homozygous pathogenic mutation in SOD1 gene that presented with a progressive cerebellar ataxia and ultimately developed a complex phenotype of cerebellar ataxia and motor neuron disease. The linkage between the cerebellum and ALS is shortly discussed.

Effect of education on cognitive performance in patients with mild cognitive impairment.

This study aims to investigate if education (as a cognitive reserve proxy) modifies the profile of cognitive performance. We hypothesize that participants with higher education can remain functional (due to a better executive performance), despite a more severe memory impairment, compared with lower education individuals. One hundred and sixty-six mild cognitive impairment (MCI) individuals with at least one comprehensive neuropsychological evaluation were included in a retrospective, cross-sectional study and divided into two groups (Low Education-LE [1-4 years] and Medium-to-High Education-MHE [> 4 years]). A total of 22 neuropsychological measures were analyzed. Age-adjusted results were subject to simple regression analyses to determine the variance explained by education. Average scores and proportions of low performances were subject to group comparison. The results showed similar cognitive decline patterns between individuals with LE and MHE, with no significant difference in each cognitive domain. However, MHE revealed a steeper decline in certain cognitive domains, such as sustained attention and episodic memory, compared with the LE. Moreover, MHE showed a trend to higher proportion of tests affected when compared to LE. These suggest that individuals with higher education may remain in a MCI stage despite a more widespread cognitive impairment, reflecting a higher cognitive reserve.

Neurologists' Diagnostic Accuracy and Interspecialties' Diagnostic Concordance of Acute Vertigo: Observational Study at the Emergency Department in a Tertiary Center.

BACKGROUND: Acute vertigo (AV) is often a challenging condition. Because of its multiple causes, patients are frequently observed by neurologists and physicians from other areas of specialites, particularly Ear, Nose, and Throat (ENT). We aimed to assess the diagnostic accuracy of AV in patients observed by Neurology and other medical specialties. MATERIALS AND METHODS: Retrospective cross-sectional study with the selection of all patients with AV observed by Neurology at the Emergency Department (ED) of a tertiary center in 2019, regarding demographic data, imaging studies, diagnosis by Neurology and ENT at the ED, and diagnosis after ED discharge by different medical specialties. RESULTS: In all, 54 patients were selected, 28 (52%) of them were women. The mean age was 59.96±14.88 years; 48% had a history of AV and 89% underwent imaging studies (computed tomography scan and/or magnetic resonance imaging scan). The most frequent diagnosis established by Neurology was benign paroxysmal positional vertigo, followed by vestibular neuronitis; 28 patients were also observed by ENT with an overall concordance rate of diagnosis of 39%. After ED discharge, most patients were observed at the Balance Disorders Outpatient Clinic. Diagnosis by Neurology at the ED was not significantly different from observation by other medical specialties after ED discharge regarding the distinction between peripheral and central causes of AV (κ=0.840, 95% confidence interval: 0.740 to 0.941, P<0.005). CONCLUSIONS: Neurologists can effectively differentiate central and peripheral causes of AV at the ED. Patients with AV should be primarily evaluated by Neurology at the ED, avoiding redundant observations and allowing faster patient management.