Mapping the Cerebellar Cognitive Affective Syndrome in Patients with Chronic Cerebellar Strokes.

The cerebellar cognitive affective syndrome (CCAS) has been consistently described in patients with acute/subacute cerebellar injuries. However, studies with chronic patients have had controversial findings that have not been explored with new cerebellar-target tests, such as the CCAS scale (CCAS-S). The objective of this research is to prove and contrast the usefulness of the CCAS-S and the Montreal Cognitive Assessment (MoCA) test to evaluate cognitive/affective impairments in patients with chronic acquired cerebellar lesions, and to map the cerebellar areas whose lesions correlated with dysfunctions in these tests. CCAS-S and MoCA were administrated to 22 patients with isolated chronic cerebellar strokes and a matched comparison group. The neural bases underpinning both tests were explored with multivariate lesion-symptom mapping (LSM) methods. MoCA and CCAS-S had an adequate test performance with efficient discrimination between patients and healthy volunteers. However, only impairments determined by the CCAS-S resulted in significant regional localization within the cerebellum. Specifically, patients with chronic cerebellar lesions in right-lateralized posterolateral regions manifested cognitive impairments inherent to CCAS. These findings concurred with the anterior-sensorimotor/posterior-cognitive dichotomy in the human cerebellum and revealed clinically intra- and cross-lobular significant regions (portions of right lobule VI, VII, Crus I-II) for verbal tasks that overlap with the "language" functional boundaries in the cerebellum. Our findings prove the usefulness of MoCA and CCAS-S to reveal cognitive impairments in patients with chronic acquired cerebellar lesions. This study extends the understanding of long-term CCAS and introduces multivariate LSM methods to identify clinically intra- and cross-lobular significant regions underpinning chronic CCAS.

Frequency and Dynamics of Non-motor Symptoms Presentation in Hispanic Patients With Parkinson Disease.

The clinical phenotype of Parkinson's disease (PD) encompasses a wide range of non-motor symptoms (NMS) compromising the quality of life of affected patients. Currently, information about NMS in PD is scarce among Hispanic populations. Furthermore, few studies have reported the temporal pattern of NMS presentation. We conducted a cross-sectional study aimed to describe the frequency and time of NMS occurrence in Hispanic patients with PD using the self-completed NMS questionnaire (NMSQuest). Participants were interrogated about the time of each NMS presentation respect to the onset of motor symptoms. The frequency of NMS was described according to gender, age at disease onset, disease duration and Hoehn and Yahr (H&Y) stage. We enrolled 120 patients, 73.33% males and 26.66% females, with a mean age of 63.33 ± 8.60 years. All the participants presented at least 1 NMS. The median number of NMS per patient was 12. The most frequent NMS domains were miscellaneous, urinary tract, sleep/fatigue, and gastrointestinal tract symptoms, with no significant gender differences. The most frequent individual NMS were nocturia, urinary urgency, feeling sadness, and constipation. Any patient reported NMS before the onset of motor manifestations. The pattern of occurrence of NMS domains in our population was as follows: attention/memory, cardiovascular, gastrointestinal tract, perceptual problems/hallucinations, mood/cognition, urinary, miscellaneous, sleep/fatigue, and sexual function. Nausea/vomiting was the earliest symptom observed in all patients, whereas sexual dysfunction and changes in interest for sex were the last symptoms to occur. We found no differences in the total number and frequency of NMS between participants grouped according to their age at disease onset. Conversely, patients with a duration of disease >10 years reported a higher frequency of NMS compared to participants with a duration of disease < 10 years. The total number of NMS per patient increased as the HY stage progressed. The proportion of patients presenting symptoms of the gastrointestinal tract, urinary tract, mood/cognition, cardiovascular, and sexual function domains was higher in the HY 4-5 group. Our study provides relevant data to improve our understanding of NMS in PD, which may contribute to anticipate and plan diagnostic and therapeutic strategies among Hispanic PD patients.

A retrospective study of the clinical phenotype and predictors of survival in non-Caucasian Hispanic patients with amyotrophic lateral sclerosis.

BACKGROUND: Little is known about the clinical phenotype of amyotrophic lateral sclerosis (ALS) in non-Caucasian populations. Here, we aimed to describe the clinical characteristics, prognostic factors and survival of Mexican patients with ALS. METHODS: We conducted a retrospective study by reviewing the medical records of patients with ALS that attended and were regularly followed at a third level hospital in Mexico City from 2000 to 2015. We calculated absolute and relative frequencies of the clinical characteristics from all the participants. We also estimated correlation coefficients between clinical features and overall survival. Additionally, survival rates were compared for all participants grouped according to different clinical features using the Kaplan-Meier method and the log-rank test. RESULTS: We enrolled 45 ALS patients, 53.33% had spinal-onset ALS and 46.66% presented bulbar ALS. The male/female ratio was 0.8. The mean age at onset of symptoms was 58.11 years. Mean survival time from onset was 64.73 ± 34.83 months. Cumulative survival rate after 5 years of disease onset was 44.44%. Age at onset and age at diagnosis inversely correlated with overall survival time. Also, we found that bulbar-onset, short diagnostic delay, percutaneous endoscopic gastrostomy, mechanical ventilation, and lower total cholesterol serum levels were associated with short survival. CONCLUSIONS: The clinical characteristics of Mexican ALS patients differ from the disease phenotype observed in Caucasians. Nonetheless, the predictive value of certain well-recognized prognostic factors remains consistent in our population. The current study provides relevant information for a better understanding of prognostic factors in ALS patients from Mexico and other Latin American countries.

Consenso para el diagnóstico y tratamiento de la esclerosis múltiple en pacientes del ISSSTE / Consensus for the diagnosis and treatment of multiple sclerosis in ISSSTE patients

Resumen: La esclerosis múltiple es una de las principales enfermedades desmielinizantes del sistema nervioso central, que repercute no solo en lo económico, sino también en lo social. El Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado (ISSSTE) dispone de la mayor parte de los tratamientos que modifican la evolución de esta enfermedad y para optimizar su uso, un grupo de neurólogos de la institución se reunió para la realización de un documento sobre aspectos generales de diagnóstico y tratamiento denominado Consenso para el Diagnóstico y Tratamiento de la Esclerosis múltiple en pacientes del ISSSTE. El objetivo de este documento es dar recomendaciones de las diferentes alternativas terapéuticas contra la esclerosis múltiple.

Abstract: Multiple sclerosis is one of the main demyelinating diseases of the central nervous system, which impacts not only economically but also socially. The Mexican Institute of Security and Social Services of State Workers (ISSSTE) has most of the disease modifying treatments for this disease and to optimize its use, a group of neurologists from the institution met to make a document on general aspects of diagnosis and treatment called: Consensus for the diagnosis and treatment of multiple sclerosis in ISSSTE patients. The objective of this consensus is to give recommendations on the different therapeutic alternatives against multiple scle- rosis for adults and children.

Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.

Niemann-Pick type C disease (NPC) is a rare lysosomal disease with a protean presentation, ranging from a fatal neonatal course with visceromegaly to an adult presentation with only neurological or psychiatric symptomatology. In this report we describe the genetic and clinical characteristics of 3 Mexican patients from different families with juvenile presentation of NPC. Clinical examination, imaging of central nervous and gastrointestinal system, and EEG were performed. Genetic studies include sequencing and deletion/duplication analysis of NPC1 and NPC2 genes. All patients presented with cognitive impairment, ataxia, and supranuclear vertical gaze palsy; one case had gelastic cataplexy. Also they developed epilepsy and cortical atrophy and two patients had thinning of corpus callosum. The 3 patients were compound heterozygotes for NPC1 sequence variants, including 5 missense and 1 nonsense mutations: p.P1007A and p.F1087L in Case 1; p.Q921P and p.G992R in Case 2; and p.R348∗ and p.V1165M in case 3. Mexican patients with juvenile NPC presented with a variable clinical phenotype and compound heterozygosity. This suggests a relative high frequency of mutation carriers as it is reported for European population. Consequently, clinicians should consider NPC as a diagnosis possibility in any adolescent or young adult patient with juvenile dementia and/or ataxia, even in absence of gelastic cataplexy and supranuclear vertical gaze palsy.

Reporte de la reunión del grupo de trabajo y representantes de la OPS para la implementación del Plan Estratégico para la Epilepsia en América / Report of the meeting of the Task Force and PAHO representatives for implementation of the Strategy and Plan of Action for Epilepsy in the Americas and Caribbean

El día 6 de diciembre de 2013, en la sala de Juntas de la OPS en la Cd. de Washington, se llevó a cabo una reunión conlos integrantes del Grupo de Trabajo para la implementación del Plan Estratégico para la Epilepsia en América, con la asistencia de Jorge Rodríguez y Dévora Kestel (OPS), Li Li Min (Brasil), Carlos Acevedo y Tomás Mesa (Chile) , Marco Tulio Medina (Honduras), Patricio Abad (Ecuador) y Lilia Núñez (México). Antecedentes: el Plan Estratégico es un documento técnico breve que por sus características no podía incluir a muchas personas ni tampoco acciones concretas, fue firmado en septiembre de 2011 por los Ministros de Salud del continente Americano y constituye un documento político donde se establecen antecedentes y cuatro ejes para implementar acciones para mejorar la atención de las personas con epilepsia, que hasta el momento no se han concretado en todos los países comprometidos...

No dia 6 dedezembro de 2013, na sede da Organização Panamericana de Saúde, em Washington, aconteceu a reunião com integrantes do Grupo de Trabalho para a implementação do Plano Estratégico para a Epilepsia na América, com a participação dos pesqusiadores Jorge Rodríguez e Dévora Kestel (OPS), Li Li Min (Brasil), Carlos Acevedo e Tomás Mesa (Chile), Marco Tulio Medina (Honduras), Patricio Abad (Equador) e Lilia Núnez (México). Antencedentes: o Plano Estratégico é um documento técnico breve e que, por suas características não poderia incluir muitas pessoas, nem ações concretas. Firmado em setembro de 2011 pelos Ministros de Saúde do continente americano, o Plano constitui um documento político, que estabelece os antecedentes e quatro eixos temáticos com ações que visam melhorar cuidado das pessoas com epilepsia. Até o momento tais ações ainda não foram concretizadas pelos países comprometidos...

Mielopatías no traumáticas: experiencia del servicio de Neurología / Nontraumatic myelopathies: experience of neurology service

Material y métodos. Se estudiaron, de marzo de 1996 al mismo mes de 1998, 22 pacientes (14 mujeres, 63.3 por ciento, y 8 hombres, 18.2 por ciento) hospitalizados en el Servicio de neurología con diagnóstico de mielopatía no traumática (MNT). Se les realizó una evaluación Neurológica completa, un estudio del líquido cefalorraquídeo (LCR) e imagen por resonancia magnética (IRM) o tomografía axial computada (TAC). Se evaluaron las causas de MNT, la evolución funcional al egreso y cada tres meses hasta completar un año. Resultados: el rango de edad fue de 17 a 78 años (media: 46.5 ñ 16.15); nueve pacientes (40.5 por ciento) tenían antecedentes de proceso infeccioso. El inicio de los síntomas varió de 3 a 330 h; en 91 por ciento fue torácica, 4.5 por ciento cervical y 4.5 por ciento lumbar; 59 por ciento tuvieron síndrome de sección medular y 86.4 por ciento afección de esfínteres. Se efectuó el estudio del LCR a 19 pacientes: 78.9 por ciento fue anormal, destacando pleocitosis e hiperproteinorraquia, BAAR en 3 y en uno se observaron amibas de vida libre: La IRM fue anormal en 90.4 por ciento. La evolución funcional tuvo tendencia hacia la mejoría, p< 0.001: los diagnósticos fueron: 50 por ciento mielitis transversa, 13.6 por ciento tuberculosis, 13.6 por ciento tumores, 13.6 por ciento esclerosis múltiple, 4.5 por ciento enfermedad vascular y 4.5 por ciento amibas de vida libre