We report a 49-year-old patient suffering from spastic paraplegia with a novel heterozygous mutation and analyzed the levels of heat shock proteins (hsp)-27, dopamine (DA), and its metabolites in their cerebrospinal fluid (CSF). The hsp27 protein concentration in the patient's CSF was assayed by an ELISA kit, while DA levels and its metabolites in the CSF, 3,4-dihydroxyphenylacetic acid (DOPAC), Cys-DA, and Cys-DOPA were measured by HPLC. Whole exome sequencing demonstrated SPG-11 c.
View Article and Find Full Text PDFCentral nervous system involvement related to decompression sickness (DCS) is a very rare complication of breath-hold diving. So far, it has been postulated that repeated dives with short surface intervals represent a key factor in the development of breath-holding-related DCS. We report the case of a breath-hold diver who, after repeated immersion, developed DCS with brain involvement.
View Article and Find Full Text PDFObjective: To analyze the prevalence of antiseizure medication (ASM) in patients with brain metastasis-related epilepsy (BMRE) treated with radiosurgery and the relationship between ASM and psychiatric comorbidity.
Material And Methods: This is a cross-sectional observational design study with retrospective review of medical records of all patients with brain metastases treated with volumetric modulated arc therapy radiosurgery (VMAT-RS) between 2012 and 2018 in a tertiary oncology center. We included those patients with BMRE, analyzing the clinical and demographic data, with special attention to psychiatric comorbidities and the use of ASM.
We aimed to determine if an adolescent patient presenting with neurological impairment has xeroderma pigmentosum (XP). For this purpose, whole-exome sequencing was performed to assess mutations in genes. Dermal fibroblasts were established from a skin biopsy and XPA expression determined by immunoblotting.
View Article and Find Full Text PDFObjective: Pivotal trial have shown that patients with multiple sclerosis (MS) receiving ocrelizumab had better outcomes. However, data on ocrelizumab in clinical practice are limited. The aim of this study was to evaluate the preliminary safety profile and effectiveness of ocrelizumab treatment for multiple sclerosis (MS) in a real-world clinical setting.
View Article and Find Full Text PDFErdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis that presents potential impairment of the central nervous system (CNS). Frequent CNS impairment makes ECD a disease worth considering in the differential diagnosis of multiple sclerosis (MS). We report the case of a patient initially diagnosed with relapsing-remitting MS with an atypical course who developed ECD during the disease progression.
View Article and Find Full Text PDFObjectives: To investigate whether amnestic mild cognitive impairment (aMCI) identified with visual memory tests conveys an increased risk of Alzheimer's disease (risk-AD) and if the risk-AD differs from that associated with aMCI based on verbal memory tests.
Participants: 4,771 participants aged 70.76 (SD = 6.
Psychol Aging
November 2018
Mild Cognitive Impairment (MCI) is a heterogeneous condition between normal aging and dementia. Upon neuropsychological testing, MCI can be divided into 4 groups: single-domain amnestic MCI (sd-aMCI), multiple-domain amnestic MCI (md-aMCI), single- and multiple-domain nonamnestic MCI (sd-naMCI, md-naMCI). Some controversy exists about whether the risk of progression to Alzheimer's disease (risk-AD) is increased in all MCI subtypes.
View Article and Find Full Text PDFThis work aims to analyze encoding impairments using new assessment scores in patients with naMCI who present to memory clinics with subjective cognitive complaints. The sample included 102 participants, of whom 28 were classified as healthy controls (HC), 24 as amnestic MCI (aMCI), 24 as naMCI and 26 patients as Alzheimer's disease (AD). Research outcomes were the Encoding, Consolidation and Retrieval deficit indices from the Item Specific Deficit Approach, and traditional indices (immediate total recall, delayed cued recall, delayed total recall) derived from the Free and Cued Selective Reminding Test (FCSRT).
View Article and Find Full Text PDFObjectives: To investigate the implications of obtaining one or more low scores on a battery of cognitive tests on diagnosing mild cognitive impairment (MCI).
Design: Observational longitudinal study.
Setting: Alzheimer's Disease Neuroimaging Initiative.
Antiepileptic drugs have been known to worsen myasthenia gravis (MG) symptoms, and therefore, in patients who suffer both conditions (myasthenia and epilepsy), treatment selection is difficult. We report 2 cases of patients with MG who were safely treated with lacosamide. Evidence about antiepileptic drug treatment and adverse effects in MG is reviewed.
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