21 research outputs found
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Pseudodystonic Posture Secondary to KlippelâFeil Syndrome and Diastematomyelia
Background: Dystonic postures possess a great number of differential diagnoses.
Phenomenology Shown: We describe a pseudodystonic posture in a 61âyearâold woman with skeletal and extraâskeletal abnormalities.
Educational Value: KlippelâFeil syndrome represents an unusual cause of pseudodystonic posture to be considered in the differential diagnosis of dystonia
Pharmacovigilance in Neuroscience
Background: Adverse drug reactions (ADRs) have a high impact on morbidity and mortality of the population, becoming a public health issue. Studying and publishing about these is referred as pharmacovigilance.Objective: To describe and compare the adverse reactions produced by drugs of nervous system action (CNS-D) and neurological ADRs produced by drugs of systemic action (Sys-D). To further develop the need of reporting adverse reactions. Methods: An observational, cross-sectional, retrospective study performed on a database of neurological consultations which took place at the Neurology department. Patients meeting the inclusion criteria were selected and divided into two groups: Sys-D and CNS-D. Demographic and neurological variables were analyzed. Parametric and non-parametric statistics were used according to distribution. The Naranjo Algorithm (NA) was used to define causality.Results: 71 ADRs were described, from which 63.38% (n=45) were produced by CNS-D, especially antiepileptics by 47% (n=21) and psycholeptics by 44%. Of the total, 36.62% (n=26) were caused by Sys-D, such as antineoplastics (n=9) and antibiotics (n=9), being Cefepime the most frequent. The diagnosis of ADRs caused by a Sys-D was delayed prolonging hospitalization (p 0.05) due to a lower NA score (p 0.003) compared to the CNS-D group.Conclusion: Multiple frequently used drugs of systemic action, such as antineoplastics and antibiotics, generate neurological adverse effects. From our analysis, it was presumed that the suspicion of a neurological ADR caused by these drugs was scarce, thus causing a higher morbidity for the patient
Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America
Frontotemporal lobar degeneration is a neuropathological disorder that causes a variety of clinical syndromes including frontotemporal dementia (FTD), progressive supranuclear palsy, and corticobasal syndrome (CBS). FTD associated with parkinsonism occurs frequently as a result of mutations in the C9orf72 gene and also in the genes coding for the protein associated with microtubule tau (MAPT) and progranulin (GRN) on chromosome 17 (FTDP-17). Herein, we report an Argentinean family, of Basque ancestry, with an extensive family history of behavioral variant of FTD. Twenty-one members over 6 generations composed the pedigree. An extensive neurologic and neurocognitive examination was performed on 2 symptomatic individuals and 3 nonsymptomatic individuals. Two different phenotypes were identified among affected members, CBS in the proband and FTD in his brother. DNA was extracted from blood for these 5 individuals and whole-exome sequencing was performed on 3 of them followed by Sanger sequencing of candidate genes on the other 2. In both affected individuals, a missense mutation (p.P301L; rs63751273) in exon 10 of the MAPT gene (chr17q21.3) was identified. Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset Parkinsonism; (2) late parkinsonism associated with FTD; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS. This is the first report of the occurrence of the p.P301L-MAPT mutation in South America and supports the marked phenotypic heterogeneity among members of the same family as previously reported
Movement Disorders in Prionopathies: A Systematic Review
Background: Movement disorders are frequent features of prionopathies. However, their prevalence and onset remain poorly described.
Methods: We performed a systematic review of case reports and case series of pathologically- and genetically confirmed prionopathies. Timing of symptom and movement disorder onset were documented. Continuous variables were compared between two groups using the Wilcoxon rank sum test and between multiple groups using KruskalâWallis test. Categorical variables were compared using Fisherâs exact test.
Results: A total of 324 cases were included in this analysis. Movement disorders were a common feature at the onset of symptoms in most prionopathies. Gait ataxia was present in more than half of cases in all types of prionopathies. The prevalence of limb ataxia (20%) and myoclonus (24%) was lower in GerstmannâStrĂ€usslerâScheinker disease compared to other prionopathies (p †0.004). Myoclonus was common but often a later feature in sporadic CreutzfeldtâJakob disease (2 months before death). Chorea was uncommon but disproportionately prevalent in variant CreutzfeldtâJakob disease (30% of cases; p < 0.001). In genetic CreutzfeldtâJakob disease, E200K PRNP carriers exhibited gait and limb ataxia more often when compared to other mutation carriers.
Discussion: Movement disorders are differentially present in the course of the various prionopathies. The movement phenomenology and appearance are associated with the type of prion disease and the PRNP genotype and likely reflect the underlying pattern of neurodegeneration. Reliance on myoclonus as a diagnostic feature of sporadic CreutzfeldtâJakob disease may delay its recognition given its relatively late appearance in the disease course
Pseudodystonic Posture Secondary to KlippelâFeil Syndrome and Diastematomyelia
Background: Dystonic postures possess a great number of differential diagnoses.Phenomenology Shown: We describe a pseudodystonic posture in a 61âyearâold woman with skeletal and extraâskeletal abnormalities. Educational Value: Klippel–Feil syndrome represents an unusual cause of pseudodystonic posture to be considered in the differential diagnosis of dystonia.</p
Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency
In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson’s disease (PD) or frontotemporal dementia. Epidemiological studies helped promote research in the field that continues to improve our understanding of the link between mutations in the glucocerebrosidase (GBA) gene and PD. We conducted a review of this link, highlighting the association in GBA mutation carriers and in Gaucher disease type 1 patients (GD type 1). A comprehensive review of the literature from January 2008 to December 2018 was undertaken. Relevance findings include: (1) There is a bidirectional interaction between GBA and α- synuclein in protein homeostasis regulatory pathways involving the clearance of aggregated proteins. (2) The link between GBA deficiency and PD appears not to be restricted to α⁻synuclein aggregates but also involves Parkin and PINK1 mutations. (3) Other factors help explain this association, including early and later endosomes and the lysosomal-associated membrane protein 2A (LAMP-2A) involved in the chaperone-mediated autophagy (CMA). (4) The best knowledge allows researchers to explore new therapeutic pathways alongside substrate reduction or enzyme replacement therapies
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Holmes Tremor Partially Responsive to Topiramate: A Case Report
Background: Holmes tremor is a rare symptomatic movement disorder, characterized by a combination of resting, postural, and intention tremor. It is usually caused by lesions in the brainstem, thalamus, and cerebellum. Despite pharmacological advances, its treatment remains a challenge; many medications have been used with various degrees of effectiveness. Stereotactic thalamotomy and deep brain stimulation in the ventralis intermedius nucleus have been effective surgical procedures in cases refractory to medical treatment.
Case Report: Here we report a young woman with topiramate-responsive Holmes tremor secondary to a brainstem cavernoma.
Discussion: Herein we report a Holmes tremor responsive to Topiramate
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Sertraline-induced Hemichorea
Background: Hemichoreaâhemiballism is a syndrome secondary to different etiologies. Drug-induced hemichorea is a rare syndrome related to selective serotonin reuptake inhibitors. To the best of our knowledge, no previous cases of hemichorea associated with sertraline have been reported.
Case Report: A 65-year-old female noticed hemichorea 1 week after initiation of sertraline. After extensive investigations, other causes of hemichorea were excluded. Hemichorea remitted after sertraline withdrawal.
Discussion: In our patient, temporal association and the negative clinical assessment supported a diagnosis of likely drug-induced involuntary movement. We hypothesized that enhanced serotonergic transmission in the ventral tegmental area or nigrostriatum may be involved in sertraline-induced hemichorea