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Movement disorders: Pediatrics Trastornos del movimiento; Pediatría Trastorns del moviment; Pediatria Background The International Parkinson and Movement Disorders Society (MDS) set up a working group on pediatric movement disorders (MDS Task Force on Pediatrics) to generate recommendations to guide the transition process from pediatrics to adult health care systems in patients with childhood-onset movement disorders. Methods To develop recommendations for transitional care for childhood onset movement disorders, we used a formal consensus development process, using a multi-round, web-based Delphi survey. The Delphi survey was based on the results of the scoping review of the literature and the results of a survey of MDS members on transition practices. Through iterative discussions, we generated the recommendations included in the survey. The MDS Task Force on Pediatrics were the voting members for the Delphi survey. The task force members comprise 23 child and adult neurologists with expertise in the field of movement disorders and from all regions of the world. Results Fifteen recommendations divided across four different areas were made pertaining to: (1) team composition and structure, (2) planning and readiness, (3) goals of care, and (4) administration and research. All recommendations achieved consensus with a median score of 7 or greater. Conclusion Recommendations on providing transitional care for patients with childhood onset movement disorders are provided. Nevertheless several challenges remain in the implementation of these recommendations, related to health infrastructure and the distribution of health resources, and the availability of knowledgeable and interested practitioners. Research on the influence of transitional care programs on outcomes in childhood onset movement disorders is much needed. This study was funded by the International Parkinson's and Movement Disorders Society. The authors have no financial disclosures or conflicts of interest concerning the research related to the manuscript.

Dopa-responsive dystonia (DRD) encompasses a heterogenous group of primary dystonias, caused by enzymatic deficiencies across the amines pathway and, by definition, show as their main characteristic a favorable and sustained response to levodopa. There are up to 6 genes associated with DRD, including pathogenic variants of the GCH1gene as the most frequently involved. The typical presentation of DRD is characterized by start in childhood, lower limb-onset dystonia with daytime fluctuation, mild parkinsonism, and a sustained response to low doses of levodopa. A systematic literature search on DRD reported cases in Latin America is presented. Las distonías que responden a levodopa (DRD, siglas en inglés) abarcan un grupo de distonías primarias, causadas por deficiencias enzimáticas en la vía metabólica de las aminas y, por definición, comparten como característica principal su respuesta favorable y sostenida a levodopa. Existen hasta seis genes asociados a DRD, siendo el gen GCH1 el más frecuentemente involucrado. La presentación típica de esta entidad se caracteriza por su aparición en la niñez, distonía de inicio en miembros inferiores con fluctuación diurna, leve parkinsonismo y respuesta clara a dosis bajas de levodopa. Se incluye una búsqueda sistemática de la literatura con casos de DRD publicados en Latinoamérica.

Sex differences in Parkinson Disease (PD) risk are well-known. However, it is still unclear the role of sex chromosomes in the development and progression of PD. We performed the first X-chromosome Wide Association Study (XWAS) for PD risk in Latin American individuals. We used data from three admixed cohorts: (i) Latin American Research consortium on the GEnetics of Parkinson’s Disease (n=1,504) as discover cohort and (ii) Latino cohort from International Parkinson Disease Genomics Consortium (n = 155) and (iii) Bambui Aging cohort (n= 1,442) as replication cohorts. After developing a X-chromosome framework specifically designed for admixed populations, we identified eight linkage disequilibrium regions associated with PD. We fully replicated one of these regions (top variant rs525496; discovery OR [95%CI]: 0.60 [0.478 - 0.77], p = 3.13 ×10-5; replication OR: 0.60 [0.37-0.98], p = 0.04). rs525496 is an expression quantitative trait loci for several genes expressed in brain tissues, includingRAB9B, H2BFM, TSMB15BandGLRA4. We also replicated a previous XWAS finding (rs28602900), showing that this variant is associated with PD in non-European populations. Our results reinforce the importance of including X-chromosome and diverse populations in genetic studies.

La neurología ha sufrido una beneficiosa transformación en los últimos veinte años gracias a los nuevos descubrimientos fruto de la investigación básica y clínica así como también al acelerado desarrollo de una serie de disciplinas relacionadas que conforman las denominadas neurociencias. Los avances más importantes se han dado en la precisión de la etiología de muchas enfermedades como las genéticas o las autoinmunes así como en la comprensión de los mecanismos biomoleculares subyacentes a muchas de ellas. Se comenta el caso de la enfermedad de Parkinson como modelo de enfermedad neurodegenerativa y en donde ha habido muchos avances aunque aún insuficientes, y se hace un comentario final sobre el futuro de la neurología.

Presentamos un paciente con un síndrome opercular con síntomas y signos pseudobulbares bilaterales; la mayoría de casos presentan afectación de ambos hemisferios cerebrales, nuestro paciente tuvo afectación unilateral. Caso Clínico: Varón de 65 años, diestro, con antecedente de Hipertensión arterial, con un tiempo de enfermedad de un año y un mes de evolución, caracterizado por presentar en forma súbita monoparesia en miembro superior derecho, asimetría facial, anartria con compromiso pseudobulbar bilateral. En Resonancia Magnética se evidenció lesión isquémica del área opercular izquierda. Discusión: El síndrome opercular o biopercular conocido también como síndrome de Foix-Chavany-Marie, es una entidad poco frecuente caracterizada por la afectación del área opercular cerebral bilateral, que compromete la vía cortico-bulbar/protuberancial, es importante la presencia de la disociación motora automática-voluntaria y cuya etiología más frecuente en adultos es isquémica, como en nuestro caso. Se desconoce el motivo por el que una sola lesión puede producir afectación bilateral pseudobulbar, se postula una predominancia del haz cortico protuberancial/bulbar del hemisferio dominante. En los casos publicados el pronóstico no es favorable desde el punto de vista del lenguaje, pero en nuestro paciente hubo mejoría de la anartria, la deglución, masticación y fuerza muscular; recibió terapia física con buena evolución.

Objetivos: Determinar la asociación entre la presencia de estreñimiento y el grado de severidad de la enfermedad de Parkinson. Material y métodos: Estudio observacional analítico de casos y controles. Se utilizó una base de datos elaborada por el Departamento de Enfermedades Neurodegenerativas y movimientos involuntarios del Instituto Nacional de Ciencias Neurológicas (INCN) 2014-2015. Se revisó las características generales de ambos grupos como edad, sexo, tiempo de enfermedad y la presencia o no de estreñimiento y se estableció la severidad de síntomas mediante la escala de Hoehn y Yahr. En ambos grupos se comparó la frecuencia de los estadios de enfermedad y se realizó un cálculo de Odds Ratio entre las variables principales mediante el programa estadístico Epi info 7.0. Resultados: En el grupo con estreñimiento se observó una menor frecuencia de la escala I de Hoehn y Yahr, así como un mayor número de pacientes con escala II-V mientras en pacientes sin estreñimiento se ve una mayor frecuencia del estadio I y una baja cantidad de pacientes en estadio II-V. La asociación entre el estreñimiento y presentar un estadio mayor a I de la escala de Hoehn y Yahr fue estadísticamente significativa (OR: 6,7; IC95% (2.2-20.0)). Conclusiones: Un porcentaje moderado (46%) de pacientes con enfermedad de Parkinson presenta estreñimiento como síntoma no motor, además la probabilidad de que los pacientes tengan un estadio de la enfermedad más severo es mayor en aquellos que presentaron esta molestia.

BackgroundLarge-scale Parkinson’s disease (PD) genome-wide association studies (GWAS) and meta-analyses have, until recently, only been conducted on subjects with European-ancestry. Consequently, polygenic risk scores (PRS) constructed using PD GWAS data are likely to be less predictive when applied to non-European cohorts.MethodsUsing GWAS data from Nalls et al. 2019, we constructed a PD PRS for a Latino PD cohort (LARGE-PD) and tested it for association with PD status. We validated the PRS performance through testing the PD PRS in an independent cohort of Latino PD patients and by repeating the PRS analysis in LARGE-PD with the addition of 440 external Peruvian controls. To explore the global distribution of PD PRS, we utilized 1000 Genomes Project (1KGP) and Peruvian Genome Project (PGP) data to estimate PD risk allele frequencies. We also tested SNCA haplotypes for association with PD risk using logistic regression in LARGE-PD and a European-ancestry PD cohort from the International Parkinson Disease Genomics Consortium (IPDGC).ResultsThe GWAS-significant PD PRS had an area under the receiver-operator curve (AUC) of 0.668 (95% CI: 0.640-0.695) and explained 2.2% of the phenotypic variance on the liability scale in LARGE-PD. The inclusion of external Peruvian data as controls mitigated this result, dropping the AUC 0.632 (95% CI: 0.607-0.657). In 1KGP Latinos, we found the PD PRS to exhibit a bias by ancestry. At the SNCA locus, haplotypes differ by ancestry. Ancestry-specific SNCA haplotypes were associated with PD status in both LARGE-PD and the IPDGC cohort (p-value < 0.05). Apart from rs356182, these haplotypes share as little as 14% of their variants.ConclusionThe PD PRS has potential for PD risk prediction in Latinos, but variability caused by admixture patterns and bias in the PD PRS calculated using only European-ancestry data limits its utility. The inclusion of diverse subjects can help elucidate PD risk loci and improve risk prediction in non-European cohorts. In the case of the SNCA locus, by leveraging a Latino cohort, we provide orthogonal evidence for rs356182 causality.

Neurocysticercosis is endemic in many regions of the world. Extra parenchymal forms of neurocysticercosis are infrequent but may be associated with hydrocephalus. We report the case and show a typical MRI of fourth ventricle ependymitis caused by cysticercosis. Keywords: Ependymitis; cysticercosis.

OBJECTIVE This work was undertaken in order to identify Parkinson's disease (PD) risk variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in Latinos compared to European-ancestry subjects, and to increase the diversity in PD genome-wide association (GWAS) data. METHODS We genotyped and imputed 1,497 PD cases and controls recruited from nine clinical sites across South America. We performed a GWAS using logistic mixed models; variants with a p-value

La disfagia es un síntoma descrito como la sensación de dificultad para deglutir los elementos sólidos o líquidos por alteración de una de las 4 fases de la deglución. La enfermedad de Parkinson (EP) es un proceso neurodegenerativo progresivo cuya afectación principal se da en la pars compacta de la sustancia negra. El cuestionario SDQ (Swallowing Disturbances Questionnaire), es una escala de autoevaluación que comprende 15 preguntas sobre la frecuencia de síntomas de disfagia al momento de la alimentación en el paciente con EP. La disfagia es un síntoma no motor presente en la EP. Evaluamos la prevalencia de disfagia en 200 pacientes con EP del Instituto Nacional de Ciencias Neurológicas del Perú detectados mediante el Cuestionario SDQ, así también comparamos diferentes características demográficas, nosológicas y terapéuticas que tienen éstos pacientes. Se evaluó a 35 pacientes que tuvieran valores según el cuestionario SDQ positivos para presencia de Disfagia (17,5%). La pregunta 5 del Cuestionario SDQ fue la que presentó la mayor cantidad de respuestas positivas. Se puede suponer la correlación entre salivación y presencia o empeoramiento de disfagia. 29 de 35 pacientes utilizaban en su terapéutica Levodopa. 18 de 35 se encontraban en el Estadio 3 de la clasificación de Hoehn y Yahr.

Highlights: E200K-PRNP mutation is the most common cause of fCJD. The typical presentation includes rapidly progressive dementia, myoclonus, cerebellar manifestations, and other motor signs. Early sensory disturbances and seizures are infrequent symptoms. We described 4(out of 5) cases of fCJD manifesting ESD and seizures as dominant clinical features. The present findings further underline the clinical variability of fCJD

To date, over 90 Parkinson’s disease (PD) risk variants have been reported from genome-wide association studies (GWAS). However, these GWAS efforts have been limited to individuals of European and East Asian ancestry. We performed the first GWAS of Latino PD patients from South America, comparing 807 cases against 690 controls followed by association testing of suggestive loci in a replication cohort of 1,234 cases and 439,522 controls. We demonstrated that SNCA plays a significant role in PD etiology in a Latino cohort and identified a suggestive locus near NRROS on chromosome 3 that appeared to be driven by Peruvian subjects. We also characterized the overlap of PD genetic architecture between Europeans and Latinos with a replication of significant variants identified by Nalls et al. in their 2019 GWAS1, finding 80% concordance in direction of effect. We then leveraged the population history of Latinos via admixture mapping, identifying a significant locus on chromosome 14 in a joint test of ancestries, driven by the Native American ancestral background, and a significant locus on chromosome 6 in our test of African ancestry, containing the genes STXBP6 and RPS6KA2, respectively. Ultimately, our work reflects the most comprehensive characterization of PD genetic architecture in Latinos to date.

Childhood-onset movement disorders represent a heterogenous group of conditions. Given the complexity of these disorders, the transition of care from pediatric to adult medicine is an important consideration. We performed a scoping review of the literature on transitional care in chronic neurological disease, exploring key transitional issues and proposed transitional care models. Our aim was to describe the current knowledge and gaps about the transition process of young adults with chronic neurological disorders, paying special attention to childhood onset movement disorders. A total of 64 articles were included in the qualitative synthesis; 56 articles reported on transitional care issues, and 8 articles reported on transitional care models. Only 2 articles included patients with movement disorders. The following 4 main transitional issues were identified following synthesis of the available literature: (1) inadequate preparation for the transition process, (2) inappropriate and inconsistent transition practices, (3) inadequate adult services, and (4) heightened emotional response surrounding transition. Of the reported transitional care models, multidisciplinary ambulatory care was the most common approach. In studies evaluating patient-related outcomes, positive health, educational, and vocational outcomes were found. The available literature provides insights on issues that can arise during transition that should be addressed to improve patient and caregiver comfort and satisfaction with care. Further research is needed to evaluate how transitional care programs affect outcomes and their cost effectiveness. More studies are required to determine the needs and outcomes specific to patients with childhood onset movement disorders. © 2020 International Parkinson and Movement Disorder Society.

Background: Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. In addition, the overall identification of copy number variants at a genome-wide level has been understudied in Parkinson's disease patients. Objectives: To understand the genome-wide burden of copy number variants in Latinos and its association with Parkinson's disease. Methods: We used genome-wide genotyping data from 747 Parkinson's disease patients and 632 ancestry matched controls from the Latin American Research Consortium on the Genetics of Parkinson's disease. Results: Genome-wide copy number burden analysis showed no difference between patients vs. controls, whereas patients were significantly enriched for copy number variants overlapping known Parkinson's disease genes compared to controls (Odds Ratio: 3.97 [1.69 - 10.5], P = 0.018). PARK2 showed the strongest copy number burden, with 20 copy number variant carriers. These patients presented an earlier age of disease onset compared to patients with other copy number variants (median age at onset: 31 years vs. 57 years, P = 7.46 x 10-7). Conclusions: We found that Parkinson's disease patients are significantly enriched with copy number variants affecting known Parkinson's disease genes. We also identified that out of 250 patients with early-onset disease, 5.6% carried a copy number variant on PARK2 in our cohort. Our study is the first to analyze genome-wide copy number variants association in Latino Parkinson's disease patients and provides insights about this complex disease in this understudied population.

La disfagia es un síntoma descrito como la sensación de dificultad para deglutir los elementos sólidos o líquidos por alteración de una de las 4 fases de la deglución. La enfermedad de Parkinson (EP) es un proceso neurodegenerativo progresivo cuya afectación principal se da en la pars compacta de la sustancia negra. El cuestionario SDQ (Swallowing Disturbances Questionnaire), es una escala de autoevaluación que comprende 15 preguntas sobre la frecuencia de síntomas de disfagia al momento de la alimentación en el paciente con EP. La disfagia es un síntoma no motor presente en la EP. Evaluamos la prevalencia de disfagia en 200 pacientes con EP del Instituto Nacional de Ciencias Neurológicas del Perú detectados mediante el Cuestionario SDQ, así también comparamos diferentes características demográficas, nosológicas y terapéuticas que tienen éstos pacientes. Se evaluó a 35 pacientes que tuvieran valores según el cuestionario SDQ positivos para presencia de Disfagia (17,5%). La pregunta 5 del Cuestionario SDQ fue la que presentó la mayor cantidad de respuestas positivas. Se puede suponer la correlación entre salivación y presencia o empeoramiento de disfagia. 29 de 35 pacientes utilizaban en su terapéutica Levodopa. 18 de 35 se encontraban en el Estadio 3 de la clasificación de Hoehn y Yahr.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular events, cognitive decline, and mood disturbances. However, many CADASIL cases present with unusual symptoms such as status epilepticus, a movement disorder, or sensory dysfunction. This study describes the clinical, genetic, and radiologic characteristics of a Peruvian family with CADASIL in which multiple family members presented with severe olfactory deficits. Seven members of the family have symptoms suggestive of CADASIL, with genetic testing revealing R133C mutations in the two patients who underwent genetic testing. Cognitive testing and olfactory identification testing (Smell Identification Test) were performed in three CADASIL patients revealing total anosmia in two tested patients and severe hyposmia in the other. Olfactory dysfunction has been associated with various neurologic and psychiatric conditions, though few studies have linked it with neurovascular disorders such as CADASIL. This first reported case of CADASIL in Peru emphasizes that symptomatic olfactory dysfunction may be an unusual presentation of CADASIL and that olfactory dysfunction is important to evaluate in CADASIL patients., Highlights • The first reported family with CADASIL in Peru harbors a R133C mutation in the Notch3 gene. • Two members of the same family with CADASIL presented with complaints of symptomatic olfactory dysfunction. • This case of CADASIL in Peru emphasizes that symptomatic olfactory dysfunction may be an unusual presentation of CADASIL.

Indagamos, a partir de los manuscritos inéditos de Das Ich und das Es, los puntos eminentes instaurados por la lectura de sus tres versiones: borrador, copia en limpio y texto publicado, en el momento en que surge una disimetría entre lo reprimido-icc y un Icc no-todo reprimido. Estos documentos revelan una transcripción 'casi' directa de las formulaciones freudianas en un estado naciente que llevan la marca de pensamientos urgidos por lo real del psicoanálisis, cuando todavía no está presente el tiempo de hacerse comprender en el contexto de su obra. Y es, justamente, en esta condición de inicial que el texto manuscrito ofrece una novedosa redefinición del Icc. Tal como señala en la Introducción las cuestiones que interroga en El yo y el ello retoman los pensamientos iniciados en su escrito de 1920 pero sin seguir la elaboración teórica que llama 'especulación analítica', aunque a último momento incluya sus conclusiones. Esta relectura interroga el encuentro de la pulsión de muerte con la segunda tópica, es decir, con ese material Icc que permanece no-reconocido. Y, a partir de 1924, establece de que manera el supuesto de la pulsión de muerte ilumina la discontinuidad existente ente icc e Icc . El cruce entre la hipótesis especulativa y un masoquismo erógeno primario produce un giro y da entrada a la cura misma como satisfacción sustitutiva. En síntesis, la lectura de los textos de El yo y el ello contando, por primera vez, con las tres versiones y sus dos anexos, introducen, con la disimilitud icc e Icc, un cambio de pregunta; anticipan la hendidura o Spaltung del sujeto, con ese objeto que Freud no termina de construir; y anuncian que el Icc es lo que se funda de la huella de lo no-reconocido, que clama por ese mismo campo heterogéneo que obligaba en 1920 a tomar en consideración un más allá del principio de placer que divide el espacio euclidiano dejando asomar también su carácter disímil, asimétrico. Así, en ciertos momentos privilegiados de un análisis, vía trabajo del sueño, se produce la activación de los restos de lo visto y de lo oído, es decir, de un saber hecho de sedimentos, de los excedentes traumáticos del tesoro de palabras, para cada cual, de su lengua materna, cuando dicha lengua se separa del lenguaje produciendo un Icc no-todo reprimido que bordea el agujero de lo no-reconocido, es decir, de su punto de fracaso mismo: la imposibilidad con que el sexo se inscribe en el inconsciente.

Background Mutations in the glucocerebrosidase (GBA) gene are an important risk factor for Parkinson's disease (PD). However, most GBA genetic studies in PD have been performed in patients of European origin and very few data are available in other populations. Methods We sequenced the entire GBA coding region in 602 PD patients and 319 controls from Colombia and Peru enrolled as part of the Latin American Research Consortium on the Genetics of Parkinson's disease (LARGE-PD). Results We observed a significantly higher proportion of GBA mutation carriers in patients compared to healthy controls (5.5% vs 1.6%; OR = 4.3, p = 0.004). Interestingly, the frequency of mutations in Colombian patients (9.9%) was more than two-fold greater than in Peruvian patients (4.2%) and other European-derived populations reported in the literature (4–5%). This was primarily due to the presence of a population-specific mutation (p.K198E) found only in the Colombian cohort. We also observed that the age at onset was significantly earlier in GBA carriers when compared to non-carriers (47.1 ± 14.2 y vs. 55.9 ± 14.2 y; p = 0.0004). Conclusion These findings suggest that GBA mutations are strongly associated with PD risk and earlier age at onset in Peru and Colombia. The high frequency of GBA carriers among Colombian PD patients (∼10%) makes this population especially well-suited for novel therapeutic approaches that target GBA-related PD.

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Mutations in Leucine Repeat Rich Kinase 2 (LRRK2), primarily located in codons G2019 and R1441, represent the most common genetic cause of Parkinson’s disease in European-derived populations. However, little is known about the frequency of these mutations in Latin American populations. In addition, a prior study suggested that a LRRK2 polymorphism (p.Q1111H) specific to Latino and Amerindian populations might be a risk factor for Parkinson’s disease, but this finding requires replication. We screened 1734 Parkinson’s disease patients and 1097 controls enrolled in the Latin American Research Consortium on the Genetics of Parkinson’s disease (LARGE-PD), which includes sites in Argentina, Brazil, Colombia, Ecuador, Peru, and Uruguay. Genotypes were determined by TaqMan assay (p.G2019S and p.Q1111H) or by sequencing of exon 31 (p.R1441C/G/H/S). Admixture proportion was determined using a panel of 29 ancestry informative markers. We identified a total of 29 Parkinson’s disease patients (1.7%) who carried p.G2019S and the frequency ranged from 0.2% in Peru to 4.2% in Uruguay. Only two Parkinson’s disease patients carried p.R1441G and one patient carried p.R1441C. There was no significant difference in the frequency of p.Q1111H in patients (3.8%) compared to controls (3.1%; OR 1.02, p = 0.873). The frequency of LRRK2-p.G2019S varied greatly between different Latin American countries and was directly correlated with the amount of European ancestry observed. p.R1441G is rare in Latin America despite the large genetic contribution made by settlers from Spain, where the mutation is relatively common., Genetic risk: Uncovering ethnic-specific mutations A new study reveals the frequency of Leucine-Rich Repeat Kinase 2 (LRRK2) mutations associated with Parkinson’s disease (PD) in Latin Americans. Ignacio F. Mata at the University of Washington and the VA Puget Sound Health Care System, Seattle, USA, and colleagues from six South American countries have screened the largest cohort of Latino PD patients ever assembled (1739) and 1104 healthy controls for LRRK2 mutations that are known to cause PD in European-derived populations. They found that the p.G2019S missense mutation was the most common, although its frequency varied greatly between countries and was directly correlated with European ancestry. In contrast, the p.R1441G mutation which is common in Spain is rare in Latin America. Further analyses of this cohort will help to further characterize the genetic profile of PD patients in Latin America and contribute to the development of personalized medicines.

Background Multiple system atrophy (MSA) is an adult-onset and rapidly progressive, neurodegenerative condition that presents with autonomic dysfunction, parkinsonism, cerebellar ataxia and corticospinal deficits. Clinical, demographic and epidemiological data from different regions have provided valuable information concerning the natural history of MSA. There are no published data of Multiple System Atrophy (MSA) in Latin American countries. Objective To describe clinical and epidemiological data of patients with "possible" MSA from seven referral movement disorders centers from Argentina, Chile, Mexico, Peru and United States. Methods We conducted a retrospective, observational, cross-sectional Pan-American multicentre cohort study of MSA. Results The sample was composed of 82 females and 77 men with the diagnosis of "possible" MSA with a mean age at onset of 65 ± 10 years. 67.29% of the individuals had a MSA-P variant with a mean age at onset of 61.47 ± 10.28 years, whereas the mean age at onset in the MSA-C patients was 57.44 ± 10.58 years. Interestingly, MSA-C-was more prevalent in Non-Caucasian (50-Mestizo and 2 Asian patients) than Caucasians (51.92% vs. 20.79%, p = 0.0001). Dysautonomic symptoms were present in 95.6% of the patients, parkinsonism in 85.5%, pyramidal signs in 25.8% and depression in 48.4% of the patients. Conclusions Our epidemiological and clinical data appears to be similar to other Western international series, however, of note, the MSA-C phenotype was predominant in Non-Caucasians, more specifically the Mestizo population. This observation opens a new path to explore. Larger prospective epidemiologic studies in Latin America may provide valuable information concerning MSA in the region.

Due to the increase in life expectancy in our country, it is necessary to study risk factors for Parkinson’s disease (PD), including apolipoprotein E (ApoE) gene, as this association is not known in our country. Objectives: To determine association of ApoE gene polymorphism and PD. Design: Associative, observational case-control analytic study. Setting: Instituto Nacional de Ciencias Neurologicas, Lima, Peru. Participants: Male and females with and without Parkinson's disease. Interventions: Genomic DNA was extracted from 163 patients and 176 controls. PCR_RFLP technique was used for ApoE gene genotyping. Main outcome measures: ApoE gene genotype and allele frequencies in cases and controls, association and risk. Results: No significant ApoE genotype differences between the control group and patients were found. Allele ε4 frequency was similar in patients and controls: 6.5 and 6.0. Odds ratio for ApoE ε4 allele associated with PD was 1.2163 (IC 95%, 0.6574-2.2507). Conclusions: ApoE ε4 allele could not be considered a risk factor for PD in the population studied. En nuestro país, con el incremento en la esperanza de vida, existe una tendencia creciente de enfermedades neurodegenerativas, por lo que se hace necesario realizar estudios sobre factores de riesgo genético en personas afectadas con la enfermedad de Parkinson (EP), entre ellos el gen de la apolipoproteína E (ApoE), ya que esta asociación es desconocida en nuestra población. Objetivo: Determinar la asociación del polimorfismo en el gen ApoE con la EP. Diseño: Estudio asociativo, observacional tipo casos y controles. Lugar: Instituto Nacional de Ciencias Neurológicas, Lima, Perú. Participantes: Personas de ambos sexos, 163 pacientes con la EP y 176 controles. Intervenciones: Extracción de ADN genómico según metodología estándar. Análisis del gen APOE mediante técnica PCR-RFLP. Principales medidas de resultados: Frecuencias genotípicas y alélicas del gen ApoE en los casos y controles, medidas de asociación y de riesgo. Resultados: No se encontró diferencias significativas entre el grupo control y los pacientes según genotipo de ApoE. La frecuencia del alelo ε4 fue similar en pacientes y en controles. El odds ratio para el alelo ε4 de la ApoE fue 1,0852 (IC 95%: 0,5812 a 2,0266). La edad de inicio de la EP no tuvo relación con los genotipos ApoE. Conclusiones: El alelo ε4 de la ApoE no podría ser considerado un factor de riesgo para la EP, y los genotipos de la ApoE no se asociaron con la edad de inicio en esta muestra evaluada.

Esse trabalho analisa a trajetória social dos fidalgos enviados para o Estado do Brasil como governadores gerais entre 1640 e 1702 e ressalta a carreira militar percorrida por eles numa conjuntura de tensão e guerra, crucial para a independência portuguesa e a consolidação da dinastia bragantina. Esses fidalgos, apesar de ocuparem na sociedade portuguesa do Antigo Regime uma posição social elevada, buscaram acrescentamento e/ou consolidaram sua presença social exercendo cargos de comando na guerra contra a Espanha e, a sua participação militar, foi uma das razões das mercês recebidas por eles, inclusive o governo geral do Estado do Brasil.This paper analyzes the social trajectory of de nobles to the State of Brazil as governor general between 1640 and 1702 and emphasizes the military career covered by them in an environment of tension and war crucial to the consolidation of Portuguese independence and Bragança dynasty. The gentlemen who came to the State of Brazil while occupying the Portuguese society of the Ancien Regime a high social position, sought to add and/or consolidated social presence exercising positions of command in the war against Spain and its military participation, was one of the reasons of mercy received by them, including the general government of the State of Brazil.

Pretendemos, com este trabalho, comparar os governos das conquistas portuguesas e espanholas da América, os governos-gerais/vice-reis do Estado do Brasil e os vice-reinados da América espanhola, destacadamente o da Nova Espanha. Trabalho de História política e administrativa, com interfaces com a História cultural e social, o artigo tem o objetivo de identificar as semelhanças e as diferenças dos poderes de governo e das cerimônias que cercavam a nomeação e a posse desses governantes, particularmente as entradas solenes. Utilizando pesquisa empírica e a historiografia, priorizamos os governantes do Estado do Brasil em contraste com os do Reino da Nova Espanha, reconhecendo diversas semelhanças nos rituais praticados nas duas conquistas e diferenças, destacadamente os papéis diferenciados desempenhados pela Câmara da Bahia e pelo Cabildo do México nas posses desses governos, além da profundidade do poder dos vice-reis espanhóis.

Introducción. La enfermedad de Parkinson (EP) es un trastorno neurodegenerativo común, el segundo más frecuente después de la enfermedad de Alzheimer. La mutación A53T en el gen SNCA, fue la primera identificada en asociación con EP. La mayoría de casos de EP en familias con esta mutación provienen de regiones cercanas al lugar del descubrimiento original. Objetivos: Evaluar la presencia de la mutación A53T en el gen SNCA en una muestra peruana de casos con EP de incidencia familiar, esporádicos y controles sanos. Material y Métodos: Se analizaron, mediante la técnica de PCR-RFLP, las muestras de ADN de 34 casos con EP esporádico, 7 casos de EP familiar y 32 individuos control. Resultados: No se encontró la mutación A53T en la muestra analizada, por lo que se infiere que ella estaría confinada a pocas familias de origen caucásico (europeo) asociadas a aquéllas con los casos originalmente descritos. Conclusiones: La mutación A53T no sería un factor causal o primario de EP en los casos evaluados. Introduction. Parkinson’s Disease (PD) is a common neurodegenerative disorder, the second most frequent after Alzheimer’s Disease. The A53T mutation in the SNCA gene was the first one identified in association with PD. Most of familial PD cases with this mutation come from regions close to the original discovery site. Objectives: To evaluate the presence of the A53T-SNCA mutation in a Peruvian sample of Parkinson´s Disease cases familial, sporadic and healthy controls. Material and Methods: DNA samples from 34 cases with sporadic PD, 7 cases of familial PD, and 32 control individuals were analyzed by PCR-RFLP. Results: The A53T mutation was not found. This mutation would be confined to a few families of European or Caucasian origin linked to the cases originally described. Conclusions: The A53T mutation would not be the primary causal factor of PD in the evaluated cases

Esse trabalho estuda a carreira e a trajetória social dos fidalgos portugueses durante o Antigo Regime. Identifica os nexos que cercavam as suas estratégias para realizar essa trajetória, ressaltando a importância dos serviços prestados por eles à monarquia, por todo o império ultramarino. Essas estratégias se materializarão por meio da reconstrução da história de um fidalgo português, Gaspar de Sousa, governador geral do Estado do Brasil, entre 1612 e 1617. The present paper studies the career and the social trajectory of Portuguese nobles during the Old Regime. It reconstructs the history of one Portuguese noble in particular: Gaspar de Sousa, Governor General of the State of Brazil between 1612 and 1617. Cet article étudie la carrière et la trajectoire sociale des nobles portugais pendant l'Ancien Régime. Il identifie les stratégies choisies dans ces trajectoires et l'importance des services faits à la monarchie dans l'espace de l' Empire. Ces stratégies sont personnifiées à travers la reconstruction de l'histoire d'un noble portugais, Gaspar de Sousa, gouverneur-général de l'Etat du Brésil entre 1612 et 1617.

En 1932, los restos de las primeras experiencias sexuales del niño están conectados con marcas dolorosas de angustia, prohibición, desengaño, castigo. Dolor y displacer han dejado de ser advertencias para volverse, ellos mismos, metas. Con Más allá surge un Icc no-todo reprimido y se cierra la brecha entre los restos ópticos y auditivos de entonces. Vía sueño se produce la activación de los restos de lo-visto y de lo-oído, del tesoro de palabras de la lengua-materna, es decir, de la "herencia", que sólo se inscribe, en momentos privilegiados de un análisis, porque se adquiere contingentemente: una marca que ya no es para todos.In 1932, the aftermath of a child's first sexual experiences leaves painful scars of angst, repression, deception and guilt. Pain and displeasure had ceased to be warnings to become goals in themselves. With "Beyond the Pleasure Principle" a not-so-repressed unconscious mind emerges and closes the gap between the audiovisual memories from beforehand. Through dreams it is possible to activate these audiovisual memories, the treasure of the mother tongue, or "heritage", which is only registered in privileged moments in analysis, because it is acquired contingently: a mark that is not meant for all.

La enfermedad de Creutzfeldt-Jakob (ECJ) es una enfermedad neurodegenerativa caracterizada por demencia rápidamente progresiva, mioclonías, compromiso motor y alteraciones características en los exámenes auxiliares; sin embargo existen presentaciones clínicas atípicas del cuadro. Presentamos un caso de ECJ esporádica en asociación clínica con un síndrome cortico-basal caracterizado por apraxia de extremidades, déficit sensorial cortical, fenómeno del miembro ajeno, bradicinesia y rigidez asimétricos; que es la presentación clásica de la degeneración corticobasal. Además los hallazgos en el electroencefalograma, resonancia magnética cerebral y resultado de la proteína14-3-3 en LCR fueron compatibles con ECJ esporádico probable. Este caso sugiere que el compromiso neurológico asimétrico puede asociarse a ECJ esporádico