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Introduction There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation. Methods The National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally. Results We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial. Conclusion There is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD. Deborah Mascalzoni is part of Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease

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.

More than 1,000 mutations mapping to 60 different loci have been recognized as the cause of hereditary ataxias. However, almost 50% of the cases are still genetically uncharacterized, with etiology remaining to be identified.1 Diagnosis and research in rare diseases such as ataxia has been significantly improved with the recent availability of next generation sequencing technologies.2 In order to expand the phenotype recently described in ataxia due to STUB1 mutations and to illustrate the utility of clinical genomics in the diagnosis of ataxias, we present a 23-year-old patient who had ataxia plus myoclonus in whom exome sequencing revealed novel compound heterozygous mutations in the STUB1 gene. Fil: Córdoba, Marta. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Rodríguez Quiroga, Sergio. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires S. A.; Argentina Fil: Alurralde, Agustín. Hospital Caleta Olivia; Argentina Fil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina

Although vascular hemichorea/hemiballism (HC/HB) has been reported to be self-limited, in some cases, it can be irreversible and severely disabling. The standard treatment includes typical and atypical neuroleptics and GABA-mimetic drugs. Topiramate is a new antiepileptic drug possessing a complex mechanism of action, including the enhancement of GABA-mediated inhibition. We describe a 71-year-old patient with HC/HB who markedly improved after topiramate treatment.