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Atypical parkinsonism (AP) is a group of complex neurodegenerative disorders with marked clinical and pathophysiological heterogeneity. The use of systems biology tools may contribute to the characterization of hub-bottleneck genes, and the identification of its biological pathways to broaden the understanding of the bases of these disorders. A systematic search was performed on the DisGeNET database, which integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature. The tools STRING 11.0 and Cytoscape 3.8.2 were used for analysis of protein-protein interaction (PPI) network. The PPI network topography analyses were performed using the CytoHubba 0.1 plugin for Cytoscape. The hub and bottleneck genes were inserted into 4 different sets on the InteractiveVenn. Additional functional enrichment analyses were performed to identify Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways and gene ontology for a described set of genes. The systematic search in the DisGeNET database identified 485 genes involved with Atypical Parkinsonism. Superimposing these genes, we detected a total of 31 hub-bottleneck genes. Moreover, our functional enrichment analyses demonstrated the involvement of these hub-bottleneck genes in 3 major KEGG pathways. We identified 31 highly interconnected hub-bottleneck genes through a systems biology approach, which may play a key role in the pathogenesis of atypical parkinsonism. The functional enrichment analyses showed that these genes are involved in several biological processes and pathways, such as the glial cell development, glial cell activation and cognition, pathways were related to Alzheimer disease and Parkinson disease. As a hypothesis, we highlight as possible key genes for AP the MAPT (microtubule associated protein tau), APOE (apolipoprotein E), SNCA (synuclein alpha) and APP (amyloid beta precursor protein) genes.

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Abstract After more than 200 years since its initial description, the clinical diagnosis of Parkinson's disease (PD) remains an often-challenging endeavor, with broad implications that are fundamental for clinical management. Despite major developments in understanding it's pathogenesis, pathological landmarks, non-motor features and potential paraclinical clues, the most accepted diagnostic criteria remain solidly based on a combination of clinical signs. Here, we review this process, discussing its history, clinical criteria, differential diagnoses, ancillary diagnostic testing, and the role of non-motor and pre-motor signs and symptoms.

Resumo Passados mais de 200 anos desde a sua descrição inicial, o diagnóstico clínico da doença de Parkinson (DP) continua a ser um processo muitas vezes desafiante, com amplas implicações que são fundamentais para o manejo clínico. Apesar dos grandes desenvolvimentos na compreensão da sua patogénese, marcadores patológicos, características não motoras e potenciais pistas paraclínicas, os critérios diagnósticos mais aceitos permanecem solidamente baseados numa combinação de sinais clínicos motores. Aqui, revisamos esse processo, discutindo sua história, critérios clínicos, diagnósticos diferenciais, testes diagnósticos complementares e o papel dos sinais e sintomas não motores e pré-motores.

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BACKGROUND AND PURPOSE: Clinical correlates of fear of falling (FoF) are scarcely studied in patients with progressive supranuclear palsy (PSP) and multiple system atrophy (MSA). This study was undertaken to evaluate the clinical correlates of FoF in PSP and MSA. METHODS: This cross-sectional study features motor, cognitive, and psychiatric assessment and longitudinal evaluation of falls and FoF at 6-month follow-up. RESULTS: Twenty-one patients with PSP-parkinsonism, 22 patients with MSA (13 parkinsonian type and nine cerebellar type), and 22 healthy controls were evaluated; 76.2% of patients with PSP and 86.4% of patients with MSA had FoF regardless of falls. Berg Balance Scale (p < 0.001), Tinetti Mobility Test (p < 0.01), Beck Anxiety Inventory (p = 0.001), and Beck Depression Inventory-II (p = 0.01) correlated with FoF in patients with PSP and MSA, whereas Timed Up and Go test (p = 0.01) and Starkstein Apathy Scale correlated only in MSA (p = 0.04). CONCLUSIONS: Mobility, balance, and gait performance as well as anxiety and depression in PSP and MSA, and apathy in MSA, were determinants of FoF. These findings underline the importance of a multidisciplinary approach to FoF in neurodegenerative atypical parkinsonism.

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PURPOSE: Despite the availability of the Unified Multiple System Atrophy (MSA) Rating Scale (UMSARS) for almost two decades, studies still use scales developed for Parkinson's disease (PD) or ataxia (ATX). Our aim was to evaluate the use of UMSARS (part II, motor) compared to other motor rating scales in patients with MSA. METHODS: A Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)-compliant literature search was conducted concerning studies of patients with MSA, reporting motor assessment with clinical rating scales, and focusing on the frequency of UMSARS use. RESULTS: We included 261 articles, of which 42.9% did not use UMSARS, but rather scales for PD (59.8%), ATX (24.1%), or both (14.3%). Although UMSARS use increased with time, misuse of PD and ATX scales persists, with no evidence of a decremental trend. CONCLUSIONS: Although higher in observational studies, the misuse of PD and ATX-related scales in MSA patients persists in prospective (planned) trials. Reasons for that must be addressed.

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INTRODUCTION: Cerebellar ataxia remains a neurological symptom orphan of treatment interventions, despite being prevalent and incapacitating. We aimed to study, in a double-blind design, whether cerebellar modulation could improve ataxia. METHODS: We included patients with diagnosis of spinocerebellar ataxia type 3, multiple systems atrophy cerebellar type, or post-lesion ataxia. Patients received five sessions each of sham and active cerebellar 1 Hz deep repetitive transcranial magnetic stimulation in randomized order. Our primary outcome was the decrease in the Scale for the Assessment and Rating of Ataxia when comparing phases (active x sham). Secondary outcomes measures included the International Cooperative Ataxia Rating Scale, and other motor, cognitive, and quality of life scales. This study was registered at clinicaltrials.gov (protocol NCT03213106). RESULTS: Twenty-four patients aged 29-74 years were included in our trial. After active stimulation, the Scale for the Assessment and Rating of Ataxia score was significantly lower than the score after sham stimulation [median (interquartile range) of 10.2 (6.2, 16.2) versus 12.8 (9.6, 17.8); p = 0.002]. The International Cooperative Ataxia Rating Scale score also improved after active stimulation versus sham [median (interquartile range) of 29.0 (21.0, 43.5) versus 32.8 (22.0, 47.0); p = 0.005]. Other secondary outcomes were not significantly modified by stimulation. No patient presented severe side effects, and nine presented mild and self-limited symptoms. CONCLUSIONS: Our protocol was safe and well-tolerated. These findings suggest that cerebellar modulation may improve ataxic symptom and provide reassurance about safety for clinical practice.

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OBJECTIVES: Parkinson's disease (PD) and the parkinsonian variant of multiple system atrophy (MSA-P) are distinct neurodegenerative disorders that share similar clinical features of parkinsonism. The morphological alterations of these diseases have yet to be understood. The purpose of this study was to evaluate gray matter atrophy in PD and MSA-P using regions of interest (ROI)-based measurements and voxel-based morphometry (VBM). METHODS: We studied 41 patients with PD, 20 patients with MSA-P, and 39 controls matched for age, sex, and handedness using an improved T1-weighted sequence that eased gray matter segmentation. The gray matter volumes were measured using ROI and VBM. RESULTS: ROI volumetric measurements showed significantly reduced bilateral putamen volumes in MSA-P patients compared with those in PD patients and controls (p<0.05), and the volumes of the bilateral caudate nucleus were significantly reduced in both MSA-P and PD patients compared with those in the controls (p<0.05). VBM analysis revealed multifocal cortical and subcortical atrophy in both MSA-P and PD patients, and the volumes of the cerebellum and temporal lobes were remarkably reduced in MSA-P patients compared with the volumes in PD patients (p<0.05). CONCLUSIONS: Both PD and MSA-P are associated with gray matter atrophy, which mainly involves the bilateral putamen, caudate nucleus, cerebellum, and temporal lobes. ROI and VBM can be used to identify these morphological alterations, and VBM is more sensitive and repeatable and less time-consuming, which may have potential diagnostic value.

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INTRODUCTION: L-threo-3,4-dihydroxyphenylserine (droxidopa), a pro-drug metabolized to norepinephrine in nerve endings and other tissues, has been commercially available in Japan since 1989 for treating orthostatic hypotension symptoms in Parkinson's disease (PD) patients with a Hoehn & Yahr stage III rating, as well as patients with Multiple System Atrophy (MSA), familial amyloid polyneuropathy, and hemodialysis. Recently, the FDA has approved its use in symptomatic neurogenic orthostatic hypotension (NOH). Areas covered: The authors review the effects of droxidopa in NOH with a focus on the neurodegenerative diseases PD, MSA, and pure autonomic failure (PAF). Expert opinion: A few small and short placebo-controlled clinical trials in NOH showed significant reductions in the manometric drop in blood pressure (BP) after posture changes or meals. Larger Phase III studies showed conflicting results, with two out of four trials meeting their primary outcome and thus suggesting a positive yet short-lasting effect of the drug on OH Questionnaire composite score, light-headedness/dizziness score, and standing BP during the first two treatment-weeks. Results appear essentially similar in PD, MSA, and PAF. The FDA granted droxidopa approval in the frame of an 'accelerated approval program' provided further studies are conducted to assess its long-term effects on OH symptoms.

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Sports activities associated with repetitive cranial trauma have become a fad and are popular in gyms and even among children. It is important to consistently characterize the consequences of such sports activities in order to better advise society on the real risks to the central nervous system. We present the case of a former boxer reporting cognitive and behavioral symptoms that began six years after his retirement as a boxer, evolving progressively with parkinsonian and cerebellar features suggestive of probable chronic traumatic encephalopathy (CTE). Using our case as a paradigm, we extended the range of differential diagnosis of CTE, including corticobasal degeneration, multiple system atrophy, vitamin B12 deficiency, neurosyphilis, frontotemporal dementia and Alzheimer's disease.

As atividades esportivas associadas ao trauma craniano repetitivo tornaram-se uma moda e são populares nas academias e entre as crianças. É importante fazer uma caracterização consistente das consequências de tais atividades esportivas, a fim de aconselhar melhor uma sociedade sobre os riscos reais para o sistema nervoso central. Apresentamos um antigo boxeador relatando sintomas cognitivos e comportamentais que começaram seis anos após sua aposentadoria como boxeador e evoluiu progressivamente com características parkinsonianas e cerebelares sugestivas de provável encefalopatia traumática crônica (ETC). Usando nosso caso como paradigma, ampliamos a gama de diagnóstico diferencial de ETC, incluindo degeneração corticobasal, atrofia de múltiplos sistemas, deficiência de vitamina B12, neurossífilis, demência frontotemporal e doença de Alzheimer.

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ABSTRACT Sports activities associated with repetitive cranial trauma have become a fad and are popular in gyms and even among children. It is important to consistently characterize the consequences of such sports activities in order to better advise society on the real risks to the central nervous system. We present the case of a former boxer reporting cognitive and behavioral symptoms that began six years after his retirement as a boxer, evolving progressively with parkinsonian and cerebellar features suggestive of probable chronic traumatic encephalopathy (CTE). Using our case as a paradigm, we extended the range of differential diagnosis of CTE, including corticobasal degeneration, multiple system atrophy, vitamin B12 deficiency, neurosyphilis, frontotemporal dementia and Alzheimer's disease.

RESUMO As atividades esportivas associadas ao trauma craniano repetitivo tornaram-se uma moda e são populares nas academias e entre as crianças. É importante fazer uma caracterização consistente das consequências de tais atividades esportivas, a fim de aconselhar melhor uma sociedade sobre os riscos reais para o sistema nervoso central. Apresentamos um antigo boxeador relatando sintomas cognitivos e comportamentais que começaram seis anos após sua aposentadoria como boxeador e evoluiu progressivamente com características parkinsonianas e cerebelares sugestivas de provável encefalopatia traumática crônica (ETC). Usando nosso caso como paradigma, ampliamos a gama de diagnóstico diferencial de ETC, incluindo degeneração corticobasal, atrofia de múltiplos sistemas, deficiência de vitamina B12, neurossífilis, demência frontotemporal e doença de Alzheimer.

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Parkinson's disease is one of the most common neurodegenerative diseases. Clinically, it is characterized by motor symptoms. Parkinson's disease should be differentiated from atypical parkinsonism conditions. Conventional magnetic resonance imaging is the primary imaging method employed in order to facilitate the differential diagnosis, and its role has grown after the development of advanced techniques such as diffusion-weighted imaging. The purpose of this article was to review the role of magnetic resonance imaging in Parkinson's disease and in the differential diagnosis with atypical parkinsonism, emphasizing the diffusion technique.

A doença de Parkinson é uma das doenças neurodegenerativas mais comuns. Clinicamente, é caracterizada por sintomas motores, devendo ser diferenciada com outras doenças que cursam com parkinsonismo, definidas como parkinsonismo atípico. A ressonância magnética convencional é o principal método de imagem para auxiliar este diagnóstico diferencial e, atualmente, seu papel tem crescido com as técnicas avançadas, como a difusão. O objetivo deste artigo é revisar o papel da ressonância magnética na doença de Parkinson e no diagnóstico diferencial com parkinsonismo atípico, com ênfase na técnica de difusão.

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Abstract Parkinson's disease is one of the most common neurodegenerative diseases. Clinically, it is characterized by motor symptoms. Parkinson's disease should be differentiated from atypical parkinsonism conditions. Conventional magnetic resonance imaging is the primary imaging method employed in order to facilitate the differential diagnosis, and its role has grown after the development of advanced techniques such as diffusion-weighted imaging. The purpose of this article was to review the role of magnetic resonance imaging in Parkinson's disease and in the differential diagnosis with atypical parkinsonism, emphasizing the diffusion technique.

Resumo A doença de Parkinson é uma das doenças neurodegenerativas mais comuns. Clinicamente, é caracterizada por sintomas motores, devendo ser diferenciada com outras doenças que cursam com parkinsonismo, definidas como parkinsonismo atípico. A ressonância magnética convencional é o principal método de imagem para auxiliar este diagnóstico diferencial e, atualmente, seu papel tem crescido com as técnicas avançadas, como a difusão. O objetivo deste artigo é revisar o papel da ressonância magnética na doença de Parkinson e no diagnóstico diferencial com parkinsonismo atípico, com ênfase na técnica de difusão.

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Objective: The absence of markers for ante-mortem diagnosis of idiopathic Parkinson's disease (IPD), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP) results in these disorders being commonly mistaken for each other, particularly in the initial stages. We aimed to investigate annualized whole-brain atrophy rates (a-WBAR) in these disorders to aid in the diagnosis between IPD vs. PSP and MSA. Methods: Ten healthy controls, 20 IPD, 39 PSP, and 41 MSA patients were studied using Structural Imaging Evaluation with Normalization of Atrophy (SIENA). SIENA is an MRI-based algorithm that quantifies brain tissue volume and does not require radiotracers. SIENA has been shown to have a low estimation error for atrophy rate over the whole brain (0.5%). Results: In controls, the a-WBAR was 0.37% ± 0.28 (CI 95% 0.17-0.57), while in IPD a-WBAR was 0.54% ± 0.38 (CI 95% 0.32-0.68). The IPD patients did not differ from the controls. In PSP, the a-WBAR was 1.93% ± 1.1 (CI 95% 1.5-2.2). In MSA a-WBAR was 1.65% ± 0.9 (CI 95%1.37-1.93). MSA did not differ from PSP. The a-WBAR in PSP and MSA were significantly higher than in IPD (p < 0.001). a-WBAR 0.6% differentiated patients with IPD from those with PSA and MSA with 91% sensitivity and 80% specificity. Conclusions: a-WBAR within the normal range is unlikely to be observed in PSP or MSA. a-WBAR may add a potential retrospective application to improve the diagnostic accuracy of MSA and PSP vs. IPD during the first year of clinical assessment.

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A Atrofia de Múltiplos Sistemas é uma doença neurodegenerativa grave, caracterizada por falência autonômica progressiva, com características parkinsonianas, cerebelares e piramidais em diferentes combinações. É a terceira causa de Parkinsonismo, atingindo 7,8% dos maiores de 40 anos, de evolução rápida e com média de 6 a 10 anos de vida após o início dos sintomas. O objetivo do estudo foi relatar um caso complexo de Atrofia de Múltiplos Sistemas acompanhado em uma Unidade de Saúde da Família. Reforça a importância da longitudinalidade para a coordenação do cuidado, o diagnóstico diferencial e a integralidade da atenção. O olhar global da equipe de saúde da família influenciou o manejo do caso, favorecendo o trabalho em rede com a abordagem especializada. Destaca a magnitude da gestão do cuidado praticada na Atenção Primária à Saúde na condução dos casos complexos.

Multiple System Atrophy is a severe neurodegenerative disorder characterized by progressive autonomic failure with parkinsonian features, pyramidal and cerebellar in different combinations. It is the third leading cause of parkinsonism, reaching 7.8% of those over 40 years old, of rapid development and an average lifespan of 6 to 10 years after the onset of symptoms. The aim of the study was to report a complex case of Multiple System Atrophy monitored in a Family Health Team. It reinforces the importance of longitudinality for the coordination of care, the differential diagnosis, and comprehensive care. The overall look of the family health team influenced the handling of the case favoring networking with the specialized approach. It highlights the magnitude of the care management practiced in Primary Health Care in the conduction of complex cases.

La Atrofia Multissistémica es una enfermedad neurodegenerativa grave caracterizada por insuficiencia autonómica progresiva con características parkinsonianos, piramidal y del cerebelo en diferentes combinaciones. Es la tercera causa de parkinsonismo, alcanzando el 7,8% de los mayores de 40 años, de rápido desarrollo y de vida media de 6 a 10 años después de la aparición de los síntomas. El objetivo del estudio fue reportar un complejo caso de Atrofia Multissistémica en una Unidad de Salud Familiar. Se refuerza la importancia de longitudinalidad para la coordinación de la atención, el diagnóstico diferencial y la atención integral. El aspecto general del equipo de salud de la familia influyó en el manejo del caso a favor de la creación de redes con enfoque especializado. Destaca la magnitud de la Gestión de la Atención practicada en la atención primaria de salud en la gestión de casos complejos.

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Fundamento: La atrofia multisistémica es un trastorno neurodegenerativo esporádico, que puede comenzar alrededor de los 60 años y ocasiona invalidez progresiva hasta la dependencia total de un cuidador. Presentación de caso: Se presenta el caso de un hombre de 57 años de edad que comenzó con cuadros de inestabilidad para la marcha y torpeza para realizar las actividades cotidianas y se interpretó como una enfermedad de Parkinson con pobre respuesta a la levodopa con bencerazida. Durante su estudio agravó los síntomas neurológicos y al realizar una tomografía axial computarizada de cráneo se evidenció atrofia cerebelosa y frontal que apoyó el diagnóstico de una atrofia multisistémica tipo C. Recibió tratamiento con levodopa con bencerazida, amantadina, y hubo alivio sintomático de la hipotensión ortostática. Conclusiones: El diagnóstico precoz de la enfermedad se dificultó por su comienzo similar a otras enfermedades neurodegenerativas, y su evolución ocasionó pérdida progresiva del validismo del paciente, sin que el tratamiento modificara el curso de la misma.

Background: The multiple system atrophy is a sporadic neurodegenerative disorder that may begin around age 60 and causes progressive disability to total dependence on a caregiver. Case report: A case presentation of a 57 year-old man who started with signs of unsteady gait and clumsiness in performing daily activities and which was interpreted as Parkinson's disease with poor response to levodopa with benserazide. During his study the patient showed worsening neurological symptoms and a computerized tomography of the skull was performed corroborating head and front cerebellar atrophy which supported the diagnosis of multiple system atrophy type C. He received treatment with levodopa together benserazide, and amantadine and a symptomatic relief of orthostatic hypotension was observed. Conclusions: Early diagnosis of the disease was hindered by its similar onset to other neurodegenerative diseases and its evolution caused progressive loss of the patient´s walking ability and the treatment did not modify the course of the disease.

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Cognitive dysfunction may occur in 17-40% of patients with multiple system atrophy (MSA). It has been suggested a milder cognitive impairment in cerebellar (MSA-C) than in parkinsonian variant (MSA-P). However, differences in cognitive profiles remain under discussion. Objective To evaluate cognitive features in a series of patients with “probable MSA” from Argentina. Method After informed consent was obtained, an extensive cognitive tests battery was administered. Nine patients (6 MSA-P and 3 MSA-C) composed the sample. Results Depression was detected in 43% of patients. Seven patients showed at least one cognitive domain impairment. Temporospatial orientation, visuospatial abilities, executive and attentional functions, episodic memory and language were compromised in MSA-P, while MSA-C dysfunction was restricted to attentional and executive domains. Conclusion Despite the small sample size, our findings could suggest a more widespread cognitive impairment in MSA-P than MSA-C. .

Disfunção cognitiva pode ocorrer em 17-40 % dos pacientes com atrofia de múltiplos sistemas (AMS). Alguns estudos têm sugerido a presença de disfunção cognitiva mais leve nos pacientes com AMS do tipo cerebelar (AMS-C) do que na variante parkinsoniana (AMS-P). Objetivo Avaliar os perfis cognitivos de uma série de pacientes argentinos com “Provável AMS”. Método Foram selecionados 6 AMS-P e 3 AMS–C aos quais foi aplicada uma extensa bateria de testes cognitivos. Resultados Depressão foi detectada em 43% dos pacientes. Sete pacientes apresentaram comprometimento de pelo menos um domínio cognitivo. As funções de orientação temporo-espacial, habilidades visuo-espaciais, função executiva e de atenção, memória episódica e linguagem foram comprometidas em pacientes com AMS-P. Nos pacientes com AMS-C as dificuldades cognitivas ficaram restritas às funções executivas e de atenção. Conclusão Apesar do pequeno tamanho da amostra, nossos achados sugerem que pacientes com AMS-P apresentam um comprometimento cognitivo mais amplo do que pacientes com AMS-C. .

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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.

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Introducción. La atrofia multisistémica (AMS) es una enfermedad degenerativa caracterizada por disautonomías y síntomas cerebelosos (AMS-C) o parkinsonismo (AMS-PK). El diagnóstico diferencial de la AMS-PK con otros parkinsonismos es difícil, por lo cual se requiere una ayuda paraclínica para soportar el diagnóstico clínico. La degeneración del núcleo de Onuf, exclusiva de esta enfermedad, podría sugerir que la presencia de denervación en el esfínter anal podría ser tomada en cuenta como criterio diagnóstico de AMS.Objetivos. Determinar la utilidad de la electromiografía de esfínter anal (EMG-EA) en el diagnóstico diferencial de AMS contra otros parkinsonismos.Materiales y métodos. Se realizó una revisión sistemática, en la cual se incluyen 17 estudios que analizaron los resultados de la EMG-EA en pacientes con AMS. De éstos, 11 estudios fueron analíticos y compararon pacientes con AMS y otros parkinsonismos. Los 6 estudios restantes fueron descriptivos.Resultados. La duración de los potenciales de unidad motora (PUM) es significativamente mayor en pacientes con AMS comparados con otros parkinsonismos, utilizar un punto de corte superior a 13 ms muestra características operativas que hacen a este parámetro potencialmente útil. Sólo un estudio encontró diferencias significativas en el porcentaje de PUM polifásicos, el cual tuvo una sensibilidad y especificidad clínicamente útilcuando el punto de corte es mayor a 60%. El resto de los estudios no reportaron diferencias estadísticamente significativas entre los diferentes parkinsonismos.Conclusiones. La literatura disponible apunta a la potencial utilidad de la EMG-EA en el diagnóstico diferencialde la AMS de otros parkinsonismos; sin embargo es necesario realizar más estudios para solventar las limitaciones metodológicas existentes.

Introduction. Multiple system atrophy (MSA) is a neurodegenerative disease; dysautonomia are the cardinalsymptoms and its associates with cerebellar syndrome (MSA-C) or parkinsonism (MSA-PK). Differential diagnosisof MSA-PK with other parkinsonism is difficult; it’s required an ideal diagnosis test. The degenerationof Onuf ’s nucleus, exclusively in MSA, might suggest that presence of denervation of the anal sphincter maybe taken into account as diagnostic criteria for AMS.Objetive. To establish the clinical utility of anal sphincter electromyography (AS-EMG) in the differentialdiagnosis of AMS with other parkinsonian syndromes.Materials and methods. A systematic review wasdone, which included 17 studies that analyzed the resultsof AS-EMG in patients with MSA. Of these, 11 studies were analytical and compared patients with MSA andother parkinsonisms, the remaining studies were descriptive.Results. The duration of motor unit potentials (MUP) is significantly higher in patients with MSA comparedwith other parkinsonism with a cut-off value superior 13 ms; the operating characteristics of this parameterare potentially useful. Only one study found significant differences in the percentage of polyphasic MUP,which had a clinically useful sensitivity and specificity when the cut off is greater than 60%. The other studiesreported no statistically significant differences between parkinsonism.Conclusions. The available literature points to the potential usefulness of EMG-EA in the differential diagnosisof parkinsonism other AMS, but more studies need to be conducted to address the existing methodologicallimitations.

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Multiple system atrophy (MSA) is characterized by a variable combination of cerebellar ataxia, parkinsonism and pyramidal signs associated with autonomic failure. Classically, cognitive impairment was not considered a clinical feature of MSA and dementia was pointed out as an exclusion diagnostic criteria. Based on comprehensive neuropsychological assessment, cognitive impairment was found to be a frequent feature in MSA, and clinically-defined dementia is now reported in 14-16% of cases. This article reviews the current data on cognitive impairment in MSA along with its neuropsychological profile and pathophysiology.

A Atrofia de Múltiplos Sistemas (AMS) é caracterizada por uma combinação variável de ataxia cerebelar, parkinsonismo e sinais piramidais, associados à disfunção autonômica. Classicamente, o comprometimento cognitivo não é considerado como manifestação clínica da AMS e a demência é apontada como um critério de exclusão para o diagnóstico. Baseado na avaliação neuropsicológica ampla, o comprometimento neuropsicológico revelou-se frequente na AMS e a presença de demência é atualmente descrita em 14-16% dos casos. Este artigo revisa os dados atuais sobre o comprometimento cognitivo na AMS, seu perfil neuropsicológico e fisiopatologia.

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Multiple system atrophy (MSA) is characterized by a variable combination of cerebellar ataxia, parkinsonism and pyramidal signs associated with autonomic failure. Classically, cognitive impairment was not considered a clinical feature of MSA and dementia was pointed out as an exclusion diagnostic criteria. Based on comprehensive neuropsychological assessment, cognitive impairment was found to be a frequent feature in MSA, and clinically-defined dementia is now reported in 14-16% of cases. This article reviews the current data on cognitive impairment in MSA along with its neuropsychological profile and pathophysiology.

A Atrofia de Múltiplos Sistemas (AMS) é caracterizada por uma combinação variável de ataxia cerebelar, parkinsonismo e sinais piramidais, associados à disfunção autonômica. Classicamente, o comprometimento cognitivo não é considerado como manifestação clínica da AMS e a demência é apontada como um critério de exclusão para o diagnóstico. Baseado na avaliação neuropsicológica ampla, o comprometimento neuropsicológico revelou-se frequente na AMS e a presença de demência é atualmente descrita em 14-16% dos casos. Este artigo revisa os dados atuais sobre o comprometimento cognitivo na AMS, seu perfil neuropsicológico e fisiopatologia.