Corrigendum: Clinical and genetic analysis of Costa Rican patients with Parkinson's disease.

[This corrects the article DOI: 10.3389/fneur.2021.656342.].

Neuromyelitis Optica Spectrum Disorder in Central America and the Caribbean: A Multinational Clinical Characterization Study.

Here, a study of NMOSD in Central America and the Caribbean with a multinational collaborative, multicentric and descriptive approach involving 25 institutions from 9 countries is presented. Demographics, clinical manifestations, expanded disability scale status (EDSS), brain and spinal cord MRI, serological anti-AQP4-IgG and anti-MOG-IgG antibodies, and cerebrospinal fluid (CSF) oligoclonal bands were included. A central serological repository utilized the cell-based assay. The specimens outside of this network employed diverse methodologies. Data were collected at the Gorgas Commemorative Institute of Health Studies (ICGES), Panama, and included 186 subjects, of which 84% were females (sex ratio of 5.6:1). Mestizos constituted 72% of the study group. The median age was 42.5 years (IQR: 32.0-52.0). Associated autoimmune diseases (8.1%) were myasthenia gravis, Sjögren's syndrome and systemic lupus erythematosus. The most common manifestation was optic neuritis-transverse myelitis (42.5%). A relapsing course was described in 72.3% of cases. EDSS scores of 0-3.5 were reported in 57.2% of cases and higher than 7.0 in 14.5%. Positive anti-AQP4-IgG antibody occurred in 59.8% and anti-MOG-IgG antibody in 11.5% of individuals. Antibody testing was lacking for 13.4% of patients. The estimated crude prevalence of NMOSD from Panama and the Dominican Republic was 1.62/100,000 (incidence of 0.08-0.41) and 0.73/100,000 (incidence 0.02-0.14), respectively. This multinational study contributes additional insights and data on the understanding of NMOSD in this Latin American region.

Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.

Background: Most research in genomics of Parkinson's disease (PD) has been done in subjects of European ancestry, leading to sampling bias and leaving Latin American populations underrepresented. We sought to clinically characterize PD patients of Costa Rican origin and to sequence familial PD and atypical parkinsonism-associated genes in cases and controls. Methods: We enrolled 118 PD patients with 97 unrelated controls. Collected information included demographics, exposure to risk and protective factors, and motor and cognitive assessments. We sequenced coding and untranslated regions in familial PD and atypical parkinsonism-associated genes including GBA, SNCA, VPS35, LRRK2, GCH1, PRKN, PINK1, DJ-1, VPS13C, and ATP13A2. Results: Mean age of PD probands was 62.12 ± 13.51 years; 57.6% were male. The frequency of risk and protective factors averaged ~45%. Physical activity significantly correlated with better motor performance despite years of disease. Increased years of education were significantly associated with better cognitive function, whereas hallucinations, falls, mood disorders, and coffee consumption correlated with worse cognitive performance. We did not identify an association between tested genes and PD or any damaging homozygous or compound heterozygous variants. Rare variants in LRRK2 were nominally associated with PD; six were located between amino acids p.1620 and 1623 in the C-terminal-of-ROC (COR) domain of Lrrk2. Non-synonymous GBA variants (p.T369M, p.N370S, and p.L444P) were identified in three healthy individuals. One PD patient carried a pathogenic GCH1 variant, p.K224R. Discussion: This is the first study that describes sociodemographics, risk factors, clinical presentation, and genetics of Costa Rican patients with PD, adding information to genomics research in a Latino population.

Epidemiology of Stroke in Costa Rica: A 7-Year Hospital-Based Acute Stroke Registry of 1319 Consecutive Patients.

BACKGROUND: Limited data on stroke exist for Costa Rica. Therefore, we created a stroke registry out of patients with stroke seen in the Acute Stroke Unit of the Hospital Calderon Guardia. METHODS: We analyzed 1319 patients enrolled over a 7-year period, which incorporated demographic, clinical, laboratory, and neuroimaging data. RESULTS: The mean age of patients with stroke was 68.0 ± 15.5 years. Seven hundred twenty-five were men and the age range was 13-104 years. The most prevalent risk factors were hypertension (78.8%), dyslipidemia (36.3%), and diabetes (31.9%). Fifteen percent had atrial fibrillation and 24.7% had a previous stroke or transient ischemic attack. Prevalence of hypertension and atrial fibrillation increased with age; however, younger patients were more associated with thrombophilia. We documented 962 (72.9%) ischemic and 270 (20.5%) hemorrhagic strokes. Of the ischemic strokes, 174 (18.1%) were considered secondary to large-artery atherothrombosis, 175 (18.2%) were due to cardiac embolism, 19 (2.0%) were due to lacunar infarcts, and 25 (2.6%) were due to other determined causes. Five hundred sixty-nine (59.1%) remained undetermined. Atherothrombotic strokes were mostly associated with dyslipidemia, diabetes, metabolic syndrome, and obesity, whereas lacunar infarcts were associated with hypertension, smoking, sedentary lifestyle, and previous stroke or transient ischemic attack. Of our patients, 69.9% scored between 0 and 9 in the initial National Institutes of Health Stroke Scale (NIHSS). CONCLUSIONS: We found differences in sociodemographic features, risk factors, and stroke severity among stroke subtypes. Risk factor prevalence was similar to other registries involving Hispanic populations.

First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.

Glycogen storage disease type II, also known as Pompe disease, is an autosomal recessive disorder caused by deficiency of enzymatic activity of acid alpha-glucosidase. The wide phenotypical variation of this disease relates to the amount of residual enzymatic activity depending on the combination of mutations on each allele. We confirmed Pompe disease in a patient that presented with progressive weakness, recurrent episodes of respiratory failure associated with pneumonia, a predominantly demyelinating mixed sensorimotor polyneuropathy and paraspinal complex repetitive discharges. Genetic analysis of the GAA gene from this patient revealed two pathogenic compound heterozygous mutations: c.-32-13T>G (rs386834236, intronic), c.2560C>T (rs121907943, p.Arg854Ter); and one variant of unknown significance: c.1551+42G>A (rs115427918, intronic). We found expected mutations in two siblings and two nieces. Genetic variants reported in this family reflect on the European and African ancestry that we carry in our Costa Rican population.

El diagnóstico de muerte neurológica en Costa Rica: análisis de los artículos 14 y 15 de la Ley No. 7409 / Diagnosis of neurological death in Costa Rica: analysis of articles 14 and 15 of law No. 7409

El presente trabajo expone algunos puntos de discusión acerca de la ley costarricense número 7409 "Ley sobre autorización para trasplantar órganos y materiales anatómicos humanos y su reglamento", en la que se describen algunos lineamientos de índole médica sobre el diagnóstico de muerte neurológica que resultan inexactos. Por ello se proponen criterios precisos para este diagnóstico, fundamentados en revisiones basadas en evidencia. Además espera ser un documento de consulta y discusión para profesionales en derecho y salud, en los diferentes gremios o asociaciones.

Reporte de un caso de Mielinolisis Central Pontina / Report one case of Central Pontine Myelinolysis

La Mielinolisis Central Pontina es una enfermedad desmielinizante no inflamatoria infrecuente que se ha asociado a reposición de sodio en hiponatremias severas y sintomáticas. No obstante existen otros factores que pueden alterar la homeostasis y así favorecer la mielinolisis; tales factores deben ser tomados en cuenta ante el manejo de una hiponatremia. Se plantean las diferentes causas que pueden contribuir a producir una mielinolisis pontina y se discute el caso de un paciente quien posterior a politrauma presenta múltiples complicaciones médicas incluyendo hiponatremia que asociado a otros factores generan una mielinolisis pontina demostrada. Palabras claves: Mielinolisis central pontina, hiponatremia, desnutrición.