Parkinsonism in liver diseases or dysfunction.

Parkinsonism in liver diseases or dysfunction, mainly including neurological manifestations in hereditary liver diseases and neurological complications of advanced liver diseases, occur in isolation or in combination with other movement disorders, and progress along disease course. Prominent akinetic-rigidity syndrome, various onset and progression, poor levodopa response and metabolism abnormalities reflected by serum biomarkers and neuroimaging, make this atypical parkinsonism recognizable and notable in clinical practice. Different susceptibility of brain areas, especially in basal ganglia, to manganese, iron, copper, ammonia overload, together with subsequent oxidative stress, neurotransmitter alterations, disturbed glia-neuron homeostasis and eventually neurotoxicity, contribute to parkinsonism under the circumstances of insufficient liver clearance ability. These mechanisms are interrelated and may interact collectively, adding to the complexity of clinical manifestations and treatment responses. This review summarizes shared clinical features of parkinsonism in liver diseases or dysfunction, depicts their underlying mechanisms and suggests practical flowchart for differential diagnosis.

Progressive supranuclear palsy, a case report.

Progressive Supranuclear Palsy (PSP), also known as Steele-Richardson-Olszewski syndrome, is a rare neurodegenerative disease characterized by a variety of motor and neuro-ophthalmological symptoms. We present the case of a 73-year-old male patient with a history of type 2 diabetes and high blood pressure, who consulted for gait disorders, tremors in the extremities, and difficulty controlling conjugate gaze. During physical examination, findings consistent with PSP were noted, including hypomimia, muscle rigidity, and abnormal movements. The initial misdiagnosis of Parkinson's disease and subsequent administration of levodopa highlight the importance of accurate diagnosis in complex neurological conditions. This clinical case highlights the need for a thorough evaluation of neuro-ophthalmological symptoms and signs to ensure an appropriate therapeutic approach and improve the quality of life of patients.

Estratificación del riesgo de fenoconversión al parkinsonismo en pacientes con trastorno de conducta del sueño REM aislado. Estudio de seguimiento en un centro de Turquía / Risk stratification for phenoconversion in patients with isolated REM sleep behavior disorder. A follow-up study from Turkey

Introducción El trastorno aislado de la conducta del sueño con movimientos oculares rápidos (iRBD) es uno de los marcadores prodrómicos más potentes de las alfa-sinucleinopatías. Nuestro objetivo fue investigar los predictores clínicos y cuan­titativos no invasivos de la fenoconversión de iRBD a parkinsonismo. Pacientes y métodos Se siguió prospectivamente a un total de 45 pacientes (57,8% hombres) durante ocho años del período de estudio. Se realizaron evaluaciones clínicas, la prueba de identificación de olores Sniffin’ Sticks, la prueba Farnsworth-Munsell 100 Hue Color Vision, el inventario de depresión de Beck y los criterios de Roma III para el estreñimiento. Se analizaron parámetros polisomnográficos, husos del sueño, análisis espectral electroencefalográfico (EEG) y variabilidad de la frecuencia cardíaca. Resultados Ocho pacientes (17,8%) mostraron fenoconversión a parkinsonismo después de una duración media de seguimiento de 3,2 ± 1 año. La odds ratio para predecir la fenoconversión fue más alta para los pacientes =60 años con anosmia y estreñimiento –44,8 (4,5-445,7); kappa = 4,291–. La disminución de la potencia del espectro EEG, junto con la edad =60 años, la anosmia y el estreñimiento, dio como resultado el índice de odds más alto –122,5 (9,7-1543,8); kappa = 3,051–. Conclusiones Es de gran importancia tener una perspectiva mundial de las tasas de fenoconversión de iRBD a neurodegeneración manifiesta, ya que los factores raciales y geográficos pueden desempeñar importantes papeles modificadores. Los biomarcadores neurofisiológicos parecen ser predictores importantes de la fenoconversión, aunque se necesita más investigación para establecer subtipos de iRBD con diferentes probabilidades de evolución hacia una sinucleinopatía manifiesta. (AU)

INTRODUCTION Isolated rapid eye movement (REM) sleep behavior disorder (iRBD) is one of the strongest prodromal markers of alpha-synucleinopathies. We aimed to investigate non-invasive clinical and quantitative predictors of phenoconversion from iRBD to parkinsonism. PATIENTS AND METHODS We prospectively followed-up a total of 45 patients (57.8% men) for eight years. Clinical assessments, Sniffin’ Sticks Odor Identification Test, Farnsworth-Munsell 100 Hue Color Vision test, Beck Depression Inventory and Rome III Criteria for constipation were performed. Polysomnographic parameters, sleep spindles, electroencephalographic (EEG) spectral analysis, heart rate variability (HRV) were analyzed. RESULTS Eight patients (17.8%) showed phenoconversion to parkinsonism after a mean duration of 3.2 ± 1 years. Odds ratio for predicting phenoconversion was highest for patients =60 years of age with anosmia and constipation –44.8 (4.5-445.7); kappa = 4.291–. Duration, frequency or density of sleep spindles failed to demonstrate significant correlations. In EEG spectral analysis, lower alpha power in occipital region during wakefulness and REM sleep was significantly correlated with phenoconversion. Slowing in EEG spectrum power, together with age =60 years, anosmia and constipation, resulted in the highest odds ratio –122.5 (9.7-1543.8); kappa = 3.051–. CONCLUSIONS It is of great importance to have a world-wide perspective of phenoconversion rates from iRBD to overt neurodegeneration, since racial and geographical factors may play important modifying roles. Relatively younger age and shorter disease duration may also be confounding factors for lower rate in our study. Neurophysiological biomarkers seem to be important predictors of phenoconversion, though more research is needed to establish subtypes of iRBD with different probabilities of evolution to overt synucleinopathy. (AU)

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.

Estimulación cerebral profunda subtalámica en un caso de enfermedad de Parkinson idiopática y esquizofrenia / Subthalamic deep brain stimulation in a case of idiopathic Parkinson’s disease and schizophrenia

Introducción La enfermedad de Parkinson (EP) y la esquizofrenia pueden coexistir. Los antipsicóticos bloquean los receptores D2 estriados, lo que inevitablemente agrava las manifestaciones de la EP. Caso clínico Presentamos el caso de un paciente con enfermedad de Parkinson idiopática y esquizofrenia, con pobre tolerancia a dosis mínimas de levodopa, que presentó una gran mejoría tras la estimulación cerebral profunda subtalámica bilateral (ECP-NST). La ECP-NST se consideró aquí, debido a la gravedad de este caso particular, como la única posibilidad de lograr una mejoría motora. Conclusiones El diagnóstico de EP idiopática se confirmó pese al tratamiento antidopaminérgico. La ECP-NST puede considerarse como una opción de tratamiento para las manifestaciones de la EP invalidantes, siempre y cuando la selección del paciente sea cuidadosa. (AU)

Introduction. Parkinson’s disease (PD) and schizophrenia can coexist. Antipsychotics block striatal D2 receptors, which inevitably aggravates the manifestations of PD.Case report. We report the case of a male patient with idiopathic Parkinson’s disease and schizophrenia, with poor tolerance to minimal doses of levodopa, who underwent a dramatic improvement after bilateral subthalamic deep brain stimulation (DBS-STN). DBS-STN was taken into consideration here, due to the severity of this particular case, as the only possible way to achieve motor improvement.Conclusions. The diagnosis of idiopathic PD was confirmed despite antidopaminergic treatment. DBS-STN can be considered a treatment option for disabling manifestations of PD, provided that a careful selection of patients is carried out. (AU)

A variant in GRN of Spanish origin presenting with heterogeneous phenotypes.

INTRODUCTION: The variant c.1414-1G>T in the GRN gene has previously been reported as probably pathogenic in subjects of Hispanic origin in the American continent. METHODS: We report 5 families of Spanish origin carrying this variant, including the clinical, neuroimaging, and laboratory findings. RESULTS: Phenotypes were strikingly different, including cases presenting with behavioral variant frontotemporal dementia, semantic variant primary progressive aphasia, rapidly progressive motor neuron disease (pathologically documented), and tremor-dominant parkinsonism. Retinal degeneration has been found in homozygous carriers only. Ex vivo splicing assays confirmed that the mutation c.1414-1G>T affects the splicing of the exon, causing a loss of 20 amino acids in exon 11. CONCLUSIONS: We conclude that variant c.1414-1G>T of the GRN gene is pathogenic, can lead to a variety of clinical presentations and to gene dosage effect, and probably has a Spanish founder effect.

Disfunción urinaria en la enfermedad de Parkinson: una revisión práctica / Urinary dysfunction in Parkinson's disease: a practical review

Resumen La enfermedad de Parkinson (EP) es una enfermedad multisistémica de naturaleza neurodegenerativa, que clínicamente se caracteriza por presencia de síntomas motores como bradicinesia, rigidez, temblor en reposo e inestabilidad postural. Sin embargo, también pueden estar presentes síntomas no motores que constituyen trastornos del ánimo, trastornos del sueño, disfunción cognitiva o disfunción autonómica. Dentro de las disfunciones autonómicas, los síntomas urinarios se han documentado en los pacientes con enfermedad de Parkinson. Los síntomas urinarios más comunes son la nicturia, urgencia urinaria, aumento de la frecuencia miccional e incontinencia de urgencia. El presente artículo hace una revisión narrativa de la literatura actual sobre los mecanismos fisiopatológicos, manifestaciones clínicas, diagnóstico y tratamiento de la disfunción urinaria en pacientes con enfermedad de Parkinson.

Parkinson's disease (PD) is a neurodegenerative multisystemic diseases, which is clinically characterized by the presence of motor symptoms such as bradykinesia, rigidity, resting tremor, and postural instability. However, non-motor symptoms constituting mood disorders, sleep disorders, cognitive dysfunction, or autonomic dysfunction may also be present. Within autonomic dysfunctions, urinary symptoms have been documented in patients with Parkinson's disease. The most common urinary symptoms are nocturia, urinary urgency, increased urinary frequency, and urge incontinence. This article makes a narrative review of the current literature on the pathophysiological mechanisms, clinical manifestations, diagnosis and treatment of urinary dysfunction in patients with Parkinson's disease.

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.

Increased pulsatility index supports diagnosis of vascular parkinsonism versus idiopathic Parkinson's disease. / El índice de pulsatilidad intracraneal elevado apoya el diagnóstico de parkinsonismo vascular frente a enfermedad de Parkinson idiopática.

INTRODUCTION: The diagnosis of vascular parkinsonism (VP) is based on a series of clinical criteria and neuroimaging findings. An increase in transcranial Doppler ultrasonography pulsatility index (PI) has been described as a frequent finding in patients with VP. We aimed to confirm this association and to determine the PI value with the highest sensitivity and specificity for diagnosis of VP. METHOD: PI was determined in all patients admitted to Hospital Universitari i Politècnic La Fe due to parkinsonism between January 2012 and June 2016. We assessed the probability of having VP based on PI values in patients with a definite diagnosis of either VP or idiopathic Parkinson's disease (IPD). A ROC curve was created to determine the PI value with the highest sensitivity and specificity. RESULTS: We assessed a total of 146 patients with suspected parkinsonism; 54 (37%) were diagnosed with IPD and 15 (10%) with VP. Patients with VP were significantly older than those with IPD (mean age of 79 vs 68.5, P=.00144) and had a higher PI (median of 1.29 [IQR: 1.09-1.38] vs 0.96 [IQR: 0.89-1.16], P=.01328). In our sample, a PI of 1.09 conferred 84% sensitivity and 70% specificity. CONCLUSIONS: In our series, the PI was significantly higher in patients with VP than in those with IPD. We therefore support the use of transcranial Doppler ultrasonography for the initial assessment of elderly patients with akinetic-rigid syndrome.

Progressive supranuclear palsy as differential diagnosis of Parkinson's disease in the elderly.

INTRODUCTION: Progressive supranuclear palsy (PSP) is a syndrome characterized by progressive parkinsonism with early falls due to postural instability, typically vertical gaze supranuclear ophthalmoplegia, pseudobulbar dysfunction, neck dystonia and upper trunk rigidity as well as mild cognitive dysfunction. Progressive supranuclear palsy must be differentiated from Parkinson's disease taking into account several so-called red flags. MATERIALS AND METHODS: We report a case series hallmarked by gait abnormalities, falls and bradykinesia in which Parkinson's disease was the initial diagnosis. RESULTS: Due to a torpid clinical course, magnetic resonance imaging (MRI) was performed demonstrating midbrain atrophy, highly suggestive of progressive supranuclear palsy. CONCLUSION: The neuroradiological exams (magnetic resonance imaging, single photon emission computer tomography, and positron emission tomography) can be useful for diagnosis of PSP. Treatment with levodopa should be considered, especially in patients with a more parkinsonian phenotype.

Parkinsonism as presenting symptom of primary hyperparathyroidism: Improvement after surgery.

INTRODUCTION: Hypercalcemia can cause different neurological disorders, depending on the calcium level. We report an exceptional case of primary hyperparathyroidism presenting as neurological alteration and it has favourable outcome after parathyroidectomy. CASE REPORT: A 74-year-old woman presented with progressive cognitive deterioration and impaired motor function. The complementary tests showed hypercalcemia due to a parathyroid adenoma. Parathyroidectomy was performed with symptomatic improvement. CONCLUSION: Cognitive impairment of the elderly due to a parathyroid adenoma is underdiagnosed, behavioral changes and alterations of motor functions are attributed to age, dementia and frailty, representing a diagnostic challenge.

INTRODUCCIÓN: La hipercalcemia puede causar diferentes trastornos neurológicos, dependiendo de las concentraciones de calcio. Aportamos un caso excepcional de hiperparatiroidismo primario que se manifestó con deterioro neurológico rápidamente evolutivo y se resolvió mediante paratiroidectomía. CASO CLÍNICO: Mujer de 74 años que consultó por deterioro cognitivo progresivo y alteración de las funciones motoras. Las pruebas complementarias evidenciaron hipercalcemia debida a un adenoma paratiroideo. Se realizó paratiroidectomía, con mejoría sintomática. CONCLUSIÓN: El deterioro cognitivo del anciano por un adenoma paratiroideo está infradiagnosticado, pues los cambios de conducta y las alteraciones de las funciones motoras se atribuyen a la edad, la demencia y la fragilidad, suponiendo un reto diagnóstico.

Ataxina-2, nuevo blanco en enfermedades genéticas complejas / Ataxin-2, a new target in complex genetic diseases

Resumen El gen de la ataxina-2 es un blanco en la patogénesis de enfermedades complejas, entre ellas los factores de riesgo cardiovascular y enfermedades neurodegenerativas. El gen ATXN2 tiene un VNTR en el exón 1, cuya expansión por encima de las 30 repeticiones provoca al desarrollo de ataxia espinocerebelosa tipo 2; las repeticiones en rango menor se asocian con diabetes tipo 2 o esclerosis lateral amiotrófica. También este locus está ligado con fenotipos metabólicos e inflamatorios. En conclusión, el gen puede ser utilizado como marcador clínico de fenotipos metabólicos y neurológicos, lo cual está relacionado con su efecto pleiotrópico.

Abstract The ataxin 2 gene is a target in the pathogenesis of complex diseases, including cardiovascular risk factors and neurodegenerative diseases. ATXN2 gen has VNTR in exon 1, whose expansion exceeding 30 repetitions leads to the development of spinocerebellar ataxia type 2; lower-range repetitions are associated with type 2 diabetes or amyotrophic lateral sclerosis. This locus is also linked with metabolic and inflammatory phenotypes. In conclusion, this gene can be used as a clinical marker of metabolic and neurological phenotypes, which is related to its pleiotropic effect.

[Breve recorrido histórico de la enfermedad de Parkinson a 200 años de su descripción].

The original description of what currently is known as Parkinson's disease was published 200 years ago. During both these centuries, knowledge on symptomatology, pathophysiology, genetics and pharmaceutical and surgical treatment has significantly increased; however, this nosological entity continues to be of imprecise origin and progressive evolution. In the present review, the historical events that contributed to describe and improve the understanding of this disease are summarized.

La descripción original de lo que ahora conocemos como enfermedad de Parkinson fue publicada hace 200 años. Durante estos dos siglos, el conocimiento sobre la sintomatología, fisiopatología, genética, tratamiento farmacológico y quirúrgico se ha incrementado notablemente; no obstante, esta entidad nosológica continúa siendo de origen impreciso y de curso progresivo. En la presente revisión se resumen los acontecimientos históricos que contribuyeron a describir y mejorar el entendimiento de esta enfermedad.

Demencia Por Cuerpos De Lewy, Un Reto Diagnóstico / Dementia With Lewy Bodies, A Diagnostic Challenge

Resumen La Demencia por cuerpos de Lewy es una enfermedad neurodegenerativa de etiología desconocida, corresponde a la segunda causa de demencia a partir de la sexta década de vida; su diagnóstico es un reto, debido a que ciertos de los signos y síntomas que presenta son típicos de la Enfermedad de Parkinson y la Enfermedad de Alzheimer. El siguiente reporte de caso es de los primeros en documentar un paciente con Demencia por cuerpos de Lewy en el Ecuador. Se expone un caso con Demencia por cuerpos de Lewy con el fin de plasmar la dificultad diagnóstica que genera esta patología y describir las características principales que la diferencian de otros síndromes demenciales, destacadas en los criterios recientemente actualizados por el Consorcio de Demencia por Cuerpos de Lewy. Un meticuloso examen neurológico y valoración neuropsicológica fueron ejes en el estudio y pronóstico del paciente que presentamos. La Demencia por cuerpos de Lewy requiere un diagnóstico minucioso, debido al desafío que origina su reconocimiento precoz; los criterios descritos aceleraron su reconocimiento gracias a la actualización de las recomendaciones sobre el diagnóstico clínico de Demencia por cuerpos de Lewy.

Abstract Dementia with Lewy bodies is a neurodegenerative disease of unknown etiology, it is the second cause of dementia of the sixth decade of life; Its diagnosis is a challenge, because certain signs and symptoms that it presents are typical of Parkinson's Disease and Alzheimer's Disease. The following case report is one of the few documented patients with Dementia with Lewy bodies in Ecuador. We report this in order to state the diagnostic difficulty that this pathology generates and describe the main characteristics that differentiate it from other dementia syndromes, highlighted in the recently updated criteria by the Consortium of Dementia with Lewy bodies. A meticulous neurological examination and neuropsychological assessment were essential in the study and prognosis of the patient. Dementia with Lewy bodies requires a thorough diagnosis, due to the challenge that originates its early recognition; the criteria described accelerated their recognition due the update of the recommendations on the clinical diagnosis of Dementia with Lewy bodies.

Parkinsonism as presenting symptom of primary hyperparathyroidism: Improvement after surgery. / Parkinsonismo como síntoma principal de hiperparatiroidismo: recuperación tras cirugía

Introduction: Hypercalcemia can cause different neurological disorders, depending on the calcium level. We report an exceptional case of primary hyperparathyroidism presenting as neurological alteration and it has favourable outcome after parathyroidectomy. Case report: A 74-year-old woman presented with progressive cognitive deterioration and impaired motor function. The complementary tests showed hypercalcemia due to a parathyroid adenoma. Parathyroidectomy was performed with symptomatic improvement. Conclusion: Cognitive impairment of the elderly due to a parathyroid adenoma is underdiagnosed, behavioral changes and alterations of motor functions are attributed to age, dementia and frailty, representing a diagnostic challenge.

Introducción: La hipercalcemia puede causar diferentes trastornos neurológicos, dependiendo de las concentraciones de calcio. Aportamos un caso excepcional de hiperparatiroidismo primario que se manifestó con deterioro neurológico rápidamente evolutivo y se resolvió mediante paratiroidectomía. Caso clínico: Mujer de 74 años que consultó por deterioro cognitivo progresivo y alteración de las funciones motoras. Las pruebas complementarias evidenciaron hipercalcemia debida a un adenoma paratiroideo. Se realizó paratiroidectomía, con mejoría sintomática. Conclusión: El deterioro cognitivo del anciano por un adenoma paratiroideo está infradiagnosticado, pues los cambios de conducta y las alteraciones de las funciones motoras se atribuyen a la edad, la demencia y la fragilidad, suponiendo un reto diagnóstico.

Aspectos biomecânicos da locomoção de pessoas com doença de Parkinson: revisão narrativa / Biomechanical aspects of locomotion people with Parkinson's disease: review study / Aspectos biomecánicos de la locomoción de personas con enfermedad de Parkinson: una revisión

Resumo A presente revisão narrativa tem por objetivo analisar os aspectos biomecânicos da locomoção e os efeitos de intervenções nos padrões da marcha de pessoas com doença de Parkinson (DP). Fez-se uma pesquisa bibliográfica no banco de dados dos sistemas SciELO e PubMed, com as seguintes palavras: human locomotion, biomechanics, pathologic gait e Parkinson's disease, em periódicos nacionais e internacionais. Concluímos que as principais alterações biomecânicas são nos parâmetros espaçotemporais, como menor comprimento de passada e estabilidade dinâmica, além da baixa ativação muscular nos músculos propulsores, bem como menor velocidade autosselecionada da marcha. Fazem-se necessários protocolos de treinamento de caminhada que considerem esses parâmetros para auxiliar a reabilitação da marcha de pessoas com DP.

Abstract The purpose of this review was to analyze the biomechanical aspects of walking in individuals with Parkinson's disease (PD), as well as to examine the effects of intervention on gait pattern of PD. We carried out a bibliographic search on electronic databases SciELO and PubMed, using the following words: human locomotion, biomechanics, pathologic gait e Parkinson's disease, in national and international scientific journals. The main alterations on walking biomechanics are related to spatiotemporal parameters, lower stride length and dynamical stability, as well as reduced electromyographic activation on propulsion muscles and lower self-selected speed. These outcomes seem to be important targets in walking training protocols for rehabilitation of gait in PD.

Resumen La presente revisión tiene por objetivo analizar los aspectos biomecánicos de la locomoción y los efectos de las intervenciones en los patrones de la marcha en personas con enfermedad de Parkinson (EP). Se realizó una investigación bibliográfica en las bases de datos SciELO y PubMed, utilizando las siguientes palabras:human locomotion, biomechanics, pathologic gait y Parkinson's disease, en revistas nacionales e internacionales indexadas. Se llegó a la conclusión de que las principales alteraciones biomecánicas se encuentran en los parámetros espacio-temporales, como menor longitud de la zancada y estabilidad dinámica, además de una baja activación electromiográfica de los músculos propulsores, como menor velocidad autoseleccionada de la marcha. Estos resultados convierten en necesarios protocolos de entrenamiento de la marcha que tengan en cuenta estos parámetros para la rehabilitación de personas con EP.

Síndrome da Paralisia Supranuclear Progressiva: As dificuldades de diagnóstico e a atuação da Equipe multidisciplinar quanto aos cuidados à pessoa afetada por esta doença / Progressive Supranuclear Palsy Syndrome: The difficulties of diagnosis and the performance of the Multidisciplinary Team regarding the care of the person affected by this disease / Síndrome de parálisis supranuclear progresiva: Las dificultades de diagnóstico y el trabajo del equipo multidisciplinario sobre el cuidado de la persona afectada por esta enfermedad

A Síndrome da Paralisia Supranuclear Progressiva (PSP) é doença neurodegenerativa do Sistema Nervoso Central (SNC), rara, e de difícil diagnóstico, afetando principalmente o tronco cerebral e os núcleos da base. O quadro clínico se caracteriza por oftalmoparesia supranuclear, instabilidade postural e demência. O objetivo do estudo foi investigar a fisiopatologia, diagnóstico, tratamento e assistência da equipe multidisciplinar às pessoas com PSP. Revisão integrativa de 15 artigos publicados na base de dados da Biblioteca Virtual da Saúde, BVS, envolvendo estudos de casos e pesquisa de campo. O estudo revelou pouca publicação acerca da doença e, por ser rara, não existe fármaco eficiente e eficaz; o diagnóstico é limitado nas primeiras manifestações, e somente possível por meio de exames mecanicistas. Em razão de existir parco material sobre a assistência a estes casos, sugere-se que os Conselhos, Associações de Neurologia e demais especialidades envolvidas no tratamento desenvolvam, divulguem mais detalhes sobre a doença, a fim de se criar um protocolo de atendimento integral aos afetados pela síndrome, bem como o necessário apoio aos familiares e cuidadores, que auxilie nas práticas da assistência ambulatorial e familiar.

Progressive Supranuclear Palsy Syndrome (PSP) is a rare and difficult diagnosis of the central nervous system (CNS) neurodegenerative disease that mainly affects the brainstem and nuclei of the base. The clinical picture is characterized by supranuclear ophthalmoparesis, postural instability and dementia. Objective: to investigate the pathophysiology, diagnosis, treatment and assistance of the multidisciplinary team to PSP users. Integrative review of 15 articles published in the database of the Virtual Health Library, VHL, involving case studies and field research. Results: the study revealed little publication about the disease and, because it is rare, there is no efficient and effective drug; The diagnosis is limited in the first manifestations, and it is only possible by means of mechanistic examinations. Because there is little material on the assistance to these cases, it is suggested that the Neurology Councils and Associations and other specificities involved in the treatment develop and disseminate more details about the disease, in order to create a protocol for comprehensive care Affected by this syndrome, as well as the necessary support for family members and caregivers, to assist in outpatient and family care practices.

Parálisis Supranuclear Progresiva Syndrome (PSP) es una enfermedad neurodegenerativa del sistema nervioso central (SNC), una rara y difícil de diagnosticar, que afecta principalmente el tronco cerebral y los ganglios basales. El cuadro clínico se caracteriza por oftalmoparesia supranuclear, inestabilidad postural y demencia. Investigar la fisiopatología, diagnóstico, tratamiento y atención del equipo multidisciplinario para llevar a la PSP. Revisión integradora de 15 artículos publicados en la Biblioteca Virtual en Salud Base de datos, BVS, que incluye casos de estudio y la investigación de campo. El estudio mostro poca publicación de la enfermedad y, debido a que es raro, no hay ningún fármaco eficaz y eficiente; el diagnóstico es limitada en las primeras manifestaciones, y sólo es posible a través de pruebas mecanicistas. Dado que el material que hay escasa la ayuda a estos casos, se sugiere que las juntas y asociaciones de neurología y otras especilidades implicados en el tratamiento desarrollan y dan a conocer más detalles acerca de la enfermedad, de manera que se crea un protocolo de tratamiento integral para afectadas por este síndrome, así como el apoyo necesario a las familias y cuidadores para ayudar en las prácticas de atención ambulatoria y la familia.

Presentación de una paciente portadora de parálisis supranuclear progresiva / Presentation of a patient carrying a progressive supra-nuclear paralysis

La parálisis supranuclear progresiva o síndrome Steele-Richardson-Olszewsky, es una enfermedad rara, degenerativa, producida por el deterioro y muerte gradual de áreas selectas del cerebro. Se presentó el caso de una paciente femenina, de 80 años de edad, que refiere inestabilidad postural, caídas frecuentes y trastornos de memoria anterógrada, unida a trastornos cognitivos. Además, presenta rigidez nucal en retrocolis y caída de ambos párpados, temblor de la mano izquierda, lenguaje disártrico e incoherente, y temblor de ambas manos en cuenta monedas. El examen cardiovascular mostró 2º ruido aumentado, soplo sistólico III/VI en foco mitral, TA 160/90 mm de Hg, edemas en ambos miembros inferiores, frecuencia cardíaca 110 latidos/min, ingurgitación yugular. El resto del examen físico fue normal. El diagnóstico etiológico fue: parálisis supranuclear progresiva y cardiomiopatía dilatada. Se discutió que la proteína tau es importante en el mantenimiento de la morfología neuronal a través de la formación de microtúbulos, las diferentes proporciones, localizaciones, causando el síndrome Richardson. La sintomatología más común de esta entidad es la inestabilidad del postural y caídas frecuentes disartria, bradiquinesia y alteraciones visuales. La resonancia magnética y la neuroimagen funcional ayudan al diagnóstico.

The progressive supra-nuclear paralysis (PSP) or Steele-Richardson-Olszewsky’s syndrome is a strange, degenerative illness produced by the deterioration and gradual death of brain selected areas. We present the case of a female patient, aged 80 years, who refers postural instability, frequent falls and cognitive dysfunctions. She also presents stiffness in retrocollis in the back of the neck, fall of eyelids, left hand shaking, dysarthric and incoherent language, and shaking of both hands in coins counting. The cardiovascular examination showed 2nd increased beat, systolic murmur III/IV in mitral focus, AT 160/90 mm of Hg, edemas in both inferior members, hearth frequency of 110 beats/min., and jugular ingurgitation. The rest of the physical examination was normal. The etiologic diagnosis was progressive supranuclear paralysis and dilated cardiomyopathy. The tau protein is important in the maintenance of the neuronal morphology through microtubules formation, the different proportions and locations, causing the Richardson’s syndrome. The most common symptoms of this entity are postural instability and frequent falls, dysarthria, hypokinesia and visual alterations. Magnetic resonance and functional neuroimaging help the diagnosis.

Corticobasal syndrome: a diagnostic conundrum / O enigmático diagnóstico da síndrome Corticobasal

ABSTRACT Corticobasal syndrome (CBS) is an atypical parkinsonian syndrome of great interest to movement disorder specialists and behavioral neurologists. Although originally considered a primary motor disorder, it is now also recognized as a cognitive disorder, usually presenting cognitive deficits before the onset of motor symptoms. The term CBS denotes the clinical phenotype and is associated with a heterogeneous spectrum of pathologies. Given that disease-modifying agents are targeting the pathologic process, new diagnostic methods and biomarkers are being developed to predict the underlying pathology. The heterogeneity of this syndrome in terms of clinical, radiological, neuropsychological and pathological aspects poses the main challenge for evaluation.

RESUMO A síndrome corticobasal é classificada dentro do grupo das síndromes parkinsonianas atípicas, e atualmente desperta interesse em neurologistas especialistas em distúrbios do movimento e neurologia cognitiva e comportamental. Inicialmente considerada como uma síndrome tipicamente motora, hoje se reconhece a importância dos achados cognitivos na apresentação, podendo ocorrer mesmo na ausência de alterações motoras. Tal designação refere-se à síndrome clínica e é associada a várias patologias subjacentes. Tendo em vista que drogas modificadoras da doença estão focando na patologia de base, novos métodos diagnósticos de imagem e outros biomarcadores estão sendo desenvolvidos para predizer o processo patológico específico antemortem. A heterogeneidade clínica e patológica desta entidade, portanto, é o maior desafio a ser desvendado.