Multiple system atrophy: Clinical, evolutive and histopathological characteristics of a series of cases / Atrofia multisistémica: características clínicas, anatomopatológicas y evolución de una serie de casos

Background and objective: Multiple system atrophy is a rare and fatal neurodegenerative disorder, characterized by autonomic dysfunction in association with either parkinsonism or cerebellar signs. The pathologic hallmark is the presence of alpha-synuclein aggregates in oligodendrocytes, forming glial cytoplasmic inclusions. Clinically, it may be difficult to distinguish form other parkinsonisms or ataxias, particularly in the early stages of the disease. In this case series we aim to describe in detail the features of MSA patients. Material and methods: Unified MSA Rating Scale (UMSARS) score, structural and functional imaging and cardiovascular autonomic testing, are summarized since early stages of the disease. Results: UMSARS proved to be useful to perform a follow-up being longitudinal examination essential to stratify risk of poor outcome. Neuropathological diagnosis showed an overlap between parkinsonian and cerebellar subtypes, with some peculiarities that could help to distinguish from other subtypes. Conclusion: A better description of MSA features with standardized test confirmed by means of neuropathological studies could help to increase sensitivity.(AU)

Antecedentes y objetivo: La atrofia multisistémica es un trastorno neurodegenerativo raro y letal que se caracteriza por una disfunción autonómica en asociación con parkinsonismo o signos cerebelosos. La marca anatomopatológica es la presencia de agregados de α-sinucleína en los oligodendrocitos, que forman inclusiones citoplasmáticas gliales. Desde un punto de vista clínico, puede ser difícil de distinguir de otros parkinsonismos o ataxias, particularmente en las primeras etapas de la enfermedad. En esta serie de casos, nuestro objetivo es describir en detalle las características de los pacientes con atrofia multisistémica. Material y métodos: Se resumen los datos objetidos de la puntuación de la Escala de calificación unificada de la atrofia multisistémica (UMSARS), imágenes estructurales y funcionales y las pruebas autonómicas cardiovasculares realizadas desde las primeras etapas de la enfermedad. Resultados: La escala UMSAR demostró ser útil para hacer un seguimiento: el examen longitudinal esencial fue para estratificar el riesgo de peor evolución. El diagnóstico neuropatológico mostró un solapamiento entre los subtipos parkinsoniano y cerebeloso, con algunas peculiaridades que podrían ayudar a distinguir los subtipos. Conclusión: Una mejor descripción de las características de la atrofia multisistémica en casos confirmados mediante neuropatología podría ayudar a aumentar la sensibilidad del diagnóstico.(AU)

Multiple system atrophy: Clinical, evolutive and histopathological characteristics of a series of cases.

BACKGROUND AND OBJECTIVE: Multiple system atrophy is a rare and fatal neurodegenerative disorder, characterized by autonomic dysfunction in association with either parkinsonism or cerebellar signs. The pathologic hallmark is the presence of alpha-synuclein aggregates in oligodendrocytes, forming glial cytoplasmic inclusions. Clinically, it may be difficult to distinguish form other parkinsonisms or ataxias, particularly in the early stages of the disease. In this case series we aim to describe in detail the features of MSA patients. MATERIAL AND METHODS: Unified MSA Rating Scale (UMSARS) score, structural and functional imaging and cardiovascular autonomic testing, are summarized since early stages of the disease. RESULTS: UMSARS proved to be useful to perform a follow-up being longitudinal examination essential to stratify risk of poor outcome. Neuropathological diagnosis showed an overlap between parkinsonian and cerebellar subtypes, with some peculiarities that could help to distinguish from other subtypes. CONCLUSION: A better description of MSA features with standardized test confirmed by means of neuropathological studies could help to increase sensitivity.

Multiple system atrophy: Clinical, evolutive and histopathological characteristics of a series of cases.

BACKGROUND AND OBJECTIVE: Multiple system atrophy is a rare and fatal neurodegenerative disorder, characterized by autonomic dysfunction in association with either parkinsonism or cerebellar signs. The pathologic hallmark is the presence of alpha-synuclein aggregates in oligodendrocytes, forming glial cytoplasmic inclusions. Clinically, it may be difficult to distinguish form other parkinsonisms or ataxias, particularly in the early stages of the disease. In this case series we aim to describe in detail the features of MSA patients. MATERIAL AND METHODS: Unified MSA Rating Scale (UMSARS) score, structural and functional imaging and cardiovascular autonomic testing, are summarized since early stages of the disease. RESULTS: UMSARS proved to be useful to perform a follow-up being longitudinal examination essential to stratify risk of poor outcome. Neuropathological diagnosis showed an overlap between parkinsonian and cerebellar subtypes, with some peculiarities that could help to distinguish from other subtypes. CONCLUSION: A better description of MSA features with standardized test confirmed by means of neuropathological studies could help to increase sensitivity.

Síntomas no motores y motores en la enfermedad de Parkinson y su relación con la calidad de vida y los distintos subgrupos clínicos / Motor and non-motor symptoms of Parkinson's disease and their impact on quality of life and on different clinical subgroups

Objetivos: El objetivo del presente trabajo es contrastar la influencia que presentan los síntomas motores y no motores en la calidad de vida de los pacientes con enfermedad de Parkinson (EP), y observar la asociación entre ambos tipos de síntomas. Material y métodos: Estudio transversal que incluye 103 pacientes con EP (55 hombres y 48 mujeres). La calidad de vida fue estudiada con la escala 39-Item Parkinson's Disease Questionnaire (PDQ-39). También se administró la escala Unified Parkinson's Disease Rating Scale (UPDRS I-IV), agrupando diferentes ítems para analizar la presencia de temblor, rigidez, bradicinesia y síntomas axiales para definir los subgrupos clínicos. Para valorar los síntomas no motores, administramos la non-motor symptoms scale (NMSS). Se hicieron estudios de correlación entre las diferentes escalas para ver la influencia sobre la calidad de vida de síntomas motores y no motores. Resultados: Se observaron correlaciones entre las puntuaciones en el PDQ-39 Summary Index (PDQ-39_SI) y la NMSS (cc: 0,56; p < 0,001), UPDRS III (cc: 0,44; p < 0,001) y con la UPDRS IV; (cc: 0,37; p < 0,001). La mayor relación correspondía a los síntomas cognitivos y del estado de ánimo. Existe relación directa entre la puntuación en la NMSS y los síntomas axiales (cc: 0,384; p < 0,01); bradicinesia (cc: 0,299; p < 0,01) y en menor medida rigidez (cc: 0,194; p < 0,05). No se observó ninguna relación entre la presencia de temblor y la puntuación en la NMSS. Conclusión: Hay un mayor peso de los síntomas cognitivos y del estado de ánimo sobre la calidad de vida de los pacientes con EP. Hay al menos 2 fenotipos claramente diferenciados uno con predominancia de síntomas axiales donde hay una gran afectación de síntomas no motores y un fenotipo tremórico con una significativa menor presencia de los mismos

Introduction: The aim of the present study is to analyse the influence that motor and non-motor symptoms have on the quality of life (QoL) of patients with Parkinson's disease (PD), and to study the relationship between the two types of symptoms. Material and methods: This cross-sectional study included 103 patients with PD (55 men and 48 women). Quality of life was measured on the PDQ-39 scale. The UPDRS scale (I-IV) was also used, and different items were grouped to analyse the presence of tremor, rigidity, bradykinesia, and axial symptoms. The non-motor symptoms scale (NMSS) was administered to assess non-motor symptoms. We performed correlation analyses between different scales to analyse the influence of motor and non-motor symptoms on QoL. Results: Correlations were observed between the PDQ-39 summary index (PDQ39_SI) and the NMSS (correlation coefficient [cc], 0.56; p < .001), UPDRS III (cc, 0.44; p < .001) and UPDRS IV (cc, 0.37; p < .001) scores. The strongest correlation was between cognitive symptoms and mood. The analysis pointed to a direct relationship between the NMSS score and axial symptoms (cc, 0.384; p < .01), bradykinesia (cc, 0.299; p < .01), and to a lesser extent, rigidity (cc, 0.194; p < .05). No relationship was observed between presence of tremor and the NMSS score. Conclusion: Cognitive symptoms and mood exert the most influence on QoL of patients with PD. We found at least two phenotypes; one with predominantly axial symptoms, with significant involvement of non-motor symptoms, and a tremor-associated phenotype in which these symptoms are less prevalent

Motor and non-motor symptoms of Parkinson's disease and their impact on quality of life and on different clinical subgroups. / Síntomas no motores y motores en la enfermedad de Parkinson y su relación con la calidad de vida y los distintos subgrupos clínicos.

INTRODUCTION: The aim of the present study is to analyse the influence that motor and non-motor symptoms have on the quality of life (QoL) of patients with Parkinson's disease (PD), and to study the relationship between the two types of symptoms. MATERIAL AND METHODS: This cross-sectional study included 103 patients with PD (55 men and 48 women). Quality of life was measured on the PDQ-39 scale. The UPDRS scale (I-IV) was also used, and different items were grouped to analyse the presence of tremor, rigidity, bradykinesia, and axial symptoms. The non-motor symptoms scale (NMSS) was administered to assess non-motor symptoms. We performed correlation analyses between different scales to analyse the influence of motor and non-motor symptoms on QoL. RESULTS: Correlations were observed between the PDQ-39 summary index (PDQ39_SI) and the NMSS (correlation coefficient [cc], 0.56; p<.001), UPDRS III (cc, 0.44; p< .001) and UPDRS IV (cc, 0.37; p<.001) scores. The strongest correlation was between cognitive symptoms and mood. The analysis pointed to a direct relationship between the NMSS score and axial symptoms (cc, 0.384; p<.01), bradykinesia (cc, 0.299; p<.01), and to a lesser extent, rigidity (cc, 0.194; p<.05). No relationship was observed between presence of tremor and the NMSS score. CONCLUSION: Cognitive symptoms and mood exert the most influence on QoL of patients with PD. We found at least two phenotypes; one with predominantly axial symptoms, with significant involvement of non-motor symptoms, and a tremor-associated phenotype in which these symptoms are less prevalent.

Cardiocirculatory manifestations in Parkinson's disease patients without orthostatic hypotension.

The objective of this study was to characterize cardiac sympathetic denervation in Parkinson's disease (PD) patients without neurogenic orthostatic hypotension (NOH), both in terms of hemodynamics and in its relation with vascular denervation. We studied 20 PD patients without NOH. We analyzed the heart rate and blood pressure variability during various physical maneuvers. The following parameters were calculated: expiratory-inspiratory ratio, stroke volume, cardiac output, cardiac index, left ventricular ejection time, left ventricular work index, thoracic fluid content, total peripheral resistance and baroreflex sensitivity (BRS). We also measured direct and spectral derivatives of cardiac (cardiovagal) parasympathetic function. Myocardial I-123 metaiodobenzylguanidine (MIBG) scintigraphy was performed and early and late heart/mediastinum uptake ratios were analyzed. We observed that the late heart/mediastinum uptake ratio was 1.33±0.21. This parameter was correlated with years since diagnosis (correlation coefficient:-0.485; P=0.05), Unified Parkinson's Disease Rating Scale (UPDRS) III score (cc:-0.564; P=0.02) and pressure recovery time in the Valsalva maneuver (cc: 0.61; P<0.001). At rest, it was correlated with BRS (cc:0.75; P=0.003) and low-frequency diastolic blood pressure (LFDBP; cc: 0.58;P=0.017). We found no correlations with any of the cardiography impedance variables. In linear regression models, the variable that best correlated with MIBG results was LFDBP. Our results support that in absence of NOH the degree of denervation of the heart does not produce any effect on its inotropic function. Moreover, BRS and LFDBP can be used as an indirect measure of cardiac sympathetic denervation at rest.

Síndrome de taquicardia postural ortostática, síncopes autonomomediados e hiperlaxitud articular: a propósito de un caso / Postural orthostatic tachycardia syndrome, neurally-mediated syncope, and joint hypermobility: a case report

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Trastorno de conducta del sueño REM y fallo autonómico ¿ puro? A propósito de 2 casos / REM sleep behaviour disorder and ‘‘pure’’ autonomic failure. Presentation of two cases

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Ajuste farmacológico en una paciente diabética con hipotensión ortostática e hipertensión arterial nocturna / Medication adjustment in a diabetic patient with orthostatic hypotension and nocturnal arterial hypertension

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