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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. Resumen: Introducción: La variante c.1414-1G > T en el gen GRN ha sido reportada previamente como probablemente patogénica en sujetos del continente Americano de origen Hispano. Métodos: Reportamos cinco familias de origen Español portadoras de la mencionada variante. Se presentan las características clínicas, de neuroimagen y de laboratorio. Resultados: Los fenotipos encontrados difieren llamativamente entre los distintos casos, incluyendo presentación como demencia frontotemporal variante conductual, variante semántica de afasia progresiva primaria, enfermedad de neurona motora rápidamente progresiva (con confirmación neuropatológico) y parkinsonismo de predominio tremórico. Degeneración retiniana fue evidenciada únicamente en portadores homocigotos. Ensayos de splicing ex vivo confirman que la mutación c.1414-1G > T afecta el splicing del exón, causando una pérdida de 20 aminoácidos en el exón 11. Conclusiones: Concluimos que la variante c.1414-1G > T del gen GRN es patogénica, puede causar presentaciones clínicas diversas, efecto de dosis génica y probablemente represente un efecto fundador de origen Español.

Neurosyphilis is defined as the affection of the central nervous system due to the presence of Treponema pallidum. The most common neurological manifestations of the disease include meningitis, tabes or dementia. We report the case of a 57-year-old male who presents with Parkinson-like symptoms. Some months later he develops a rash, and the diagnosis of neurosyphilis is confirmed after a positive VDRL is found on serum and cerebrospinal fluid. After antimicrobial treatment, there is improvement of the Parkinson-like symptoms, which confirms the relationship between the neurological manifestations and the infection. [ABSTRACT FROM AUTHOR]

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. Resumen: 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.

Background: The Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex (ALS-PDC) was first described in the islands of Guam. This pathology presented its peak incidence in the 1950s. Due to the rarity of the association, we report a clinical case with this complex. The objective was to describe the nosological and pathogenic implications of these neurodegenerative disorder, since they are not frequent to find in our population. Clinical case: We present a case of Latinoamerican origin who initially manifested systemic symptoms of more than 6 years of evolution, with subsequent cognitive alterations. Later, patient began with gait disturbances and motor symptoms suggestive of parkinsonism with atypical data and data of motor neurone disease (MND). More studies were carried out and confirmed findings compatible with upper and lower motor neuron involvement. A mutation in the POLG gene was observed, related to mitochondrial depletion syndrome. Conclusion: Despite the knowledge of this association, it is an entity whose clinical diagnosis could be very difficult to achieve. In addition, molecular mechanisms have not been fully identified, the most common genes related to Parkinsonism and ALS have been excluded, and even attempts to locate the locus were made, without achieving accurate results. Unfortunately, being a neurodegenerative disease, the prognosis is fatal, with no disease-modifying treatment. [ABSTRACT FROM AUTHOR]

Objectives: To quantify parkinsonian patients in the Region of Murcia (RM), their health areas and zones, and find their prevalences and percentages., Material and Methods: All RM patients registered in Primary Care of the Murcian Health Service with the CIAP-2 code N87 were included. We calculated number, prevalence and percentages by age and sex groups, means and age ranges and years of evolution. The study was carried out at the age of diagnosis and at the age of data collection, analyzing their differences., Results: We obtained 3050 parkinsonian patients (1476 men and 1574 women) with respective prevalences of 206.09 cases per 100,000 inhabitants (206.09/10 5 ), 199.06/10 5 and 213.15/10 5 , not significant differences by sex or in number of patients (p=0.79) or in prevalence (P=.52). By age group, prevalences were higher in men (P<.05) between 50 and 99years of age (not between 90 and 94 and ≥100years). Of the 9 Health Areas, the highest prevalences were in areas IVNorthwest, with 322.31/10 5 , and VAltiplano, with 304.30/10 5 , and the lowest prevalence, of 171.13/10 5 , was observed in Area VIIMurcia East (P<.05). Of the 85 Health Zones, the one with the highest prevalence was Lorca-La Paca, with 510.51/10 5 , and the one with the lowest Murcia-Zarandona, with 78.48/10 5 (P<.05)., Conclusions: First demographic and detailed prevalence study of parkinsonism in the RM. The prevalence in RM was 206.09/10 5 . By health areas, the highest prevalences were in the Northwest and Altiplano and by health areas a prevalence of 510.51/10 5 stood out. This work aims to be useful to facilitate resource planning, with consequent better health care., (Copyright © 2024 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.)

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., (Copyright © 2024. Published by Elsevier España, S.L.U.)

Introduction: The cerebellar response has been studied for years with different models of alteration of other brain structures to understand its complex functioning and its relationship with the rest of the body. Studies in patients with Parkinson's disease (PD) showed that the cerebellar function is modified by deficit of the basal ganglia; which supports the hypothesis that both structures are related anatomically and functionally., Methods: In our study, the ventrolateral striatum (VLS) of the basal ganglia was altered by an electrolytic lesion, in order to produce a similar jaw frequency of jaw tremor movements presented in parkinsonism, thereafter we analyzed the effect of the lesion on the expression of multiunit activity (MUA) of the cerebellum., Results: We found cerebellar activation during mandibular movements and increment during oral jaw tremor movements. In addition, the amplitude of baseline MUA registered in animals with alteration of the VLS decreased with respect to the intact group., Conclusions: Accordingly, we conclude that cerebellar changes in MUA may be due to a decrease in the cerebellar inflectional or as a possible compensatory function between cerebellum and basal ganglia., (Copyright © 2024. Published by Elsevier España, S.L.U.)

Drug-induced parkinsonism is the main cause of secondary parkinsonism in the world. Antipsychotics, antidepressants, and mood stabilizers are the most common drugs implicated in the parkinsonism. This is why psychiatrists and neurologists must have deep knowledge of the diverse aspects of these disorders, to take the best diagnostic and therapeutic approaches. [ABSTRACT FROM AUTHOR]

Objective: To describe current approaches for the diagnosis and medical treatment of Parkinson's disease. Evidence acquisition: A bibliographic review of different articles, in the last 5 years, on the diagnosis and treatment of Parkinson's disease was carried out in PubMed with the search term "Parkinson's disease AND diagnosis AND treatment", with the filters: "Free full text, Guideline, Review, Humans, English, MEDLINE". From the articles that addressed the same topic, those that were considered most relevant and topical were selected. Results: Parkinson's disease is a heterogeneous disorder in its presentation and evolution. The criteria of the Movement Disorders Society are useful, for the diagnosis, such as: mandatory, supportive, exclusionary and red flags. These allow assessing two levels of diagnostic certainty: 1) Clinically established, and 2) Clinically probable. Several manifestations of the prodromal phase (biomarkers) can be identified before reaching a clinical diagnosis. The classification should include motor presentations (with predominance of tremor and with gait difficulty / postural instability) and clinical phenotypes (predominant light-motor, intermediate, diffuse malignant). Consultation with the Neurology specialist is important for the adequate treatment of the various motor, mental and autonomic symptoms. Conclusions: The diagnosis of Parkinson's disease is essentially clinical based on the conjugation of several inclusion and exclusion criteria. Its classification has prognostic utility and allows the treatment to be individualized. The current treatment is essentially symptomatic and specialized, but it is necessary to deepen the evidence in this regard. The variety of clinical trials of emerging therapies focused on pathophysiological processes, establishes a potential for changes in the perspective provided and greater benefit in the future. [ABSTRACT FROM AUTHOR]

Entre los sistemas dopaminérgicos que se modifican durante la evolución humana y que, en ciertas condiciones de conectividad y neurotransmisión anormal, desencadenan cambios patológicos en la adolescencia y adultez, se encuentra el mesolímbico basal. En adultos el ultrasonido transcraneal se realiza por la escama del hueso temporal con un equipamiento con transductor sectorial y focal de 1,8 a 2,8 MHz. Los puntos de evaluación ecográficos fundamentales son el mesencéfalo, el área de la sustancia negra, el rafe, el cuerpo estriado y los tálamos, el tercer ventrículo y los sectores orbitofrontales. A pesar del acceso anatómico limitado, es uno de los métodos de Neuroimágenes que cuantifica la ecogenicidad (de 0 a 3) y el área de sección de la sustancia negra (normal hasta 0,2 cm2), lo cual se correlaciona con el empeoramiento de los síntomas motores parkinsonianos. Además, se evalúa y mensura el rafe (normal: 1 mm), que se correlaciona con el humor o la apatía según corresponda. Los otros hallazgos evaluables son los cambios en el espesor del tegmentum mesenfálico (ángulo interpeduncular menor o mayor de 60°), el aumento de la ecogenicidad de los tálamos y los cuerpos estriados, y la dilatación del tercer ventrículo (mayor de 5 mm). Su presencia colabora en el diagnóstico, clasificación, tratamiento y seguimiento de distintas patologías, como enfermedad de Parkinson, parálisis supranuclear progresiva, distonías, degeneración córtico-basal, esquizofrenia, depresiones, trastorno bipolar y autismo.

Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. In the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC) of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.

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Among the neurodegenerative diseases, there is Parkinson's Disease (PD) as the second most prevalent. It is often caused by a disorder of the extra pyramidal system and it is closely related to age. The symptoms appear, in most cases, between 55 and 65 years old, reaching approximately 3% of the Brazilian population. Worldwide PD affects 1-2% of the population over 65 years old. The main symptoms may result in limitations at daily living activities already in the early stages of the disease. This article aims to review the main epidemiological, clinical and therapeutic aspects of PD, whose impact is due to functional limitations. It is observed that, as the life expectancy of the population is increasing considerably, it also increases the predisposition to neurodegenerative diseases, such as PD. Patients with the disease find increasingly close advances, which involve a better knowledge of this pathology and the introduction of new therapeutics and medicines, guaranteeing an improvement in the quality of life of these patients. [ABSTRACT FROM AUTHOR]

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.

Objective : To test the hypothesis that severity of cognitive impairment modifies the association between depression and Parkinson’s disease (PD). Method : One-phase population-based door-to-door surveys. This is a secondary analysis of 1,451 people aged 65 years and older with cognitive impairment living in defined catchment areas. Depression was estimated according to ICD-10, self-reported PD, disability according to WHODAS-II and cognitive status according to the CSI-D. Results : The mean age of the sample was 79.3 years old and most (69%) were women. Of the total sample, 16.1% had depression and it was significantly higher among participants with PD. There was an increase on the ORs of the association between depression and PD with decreased scores in the cognitive test (Adjusted OR from 0.98 to 8.04). Conclusion : The association between depression and PD increases with the severity of the cognitive impairment.

Progressive Supranuclear Palsy is a neurodegenerative disease which belongs to the Parkinsonian spectre (it is a type of Parkinsonism), that is not visible enough, and it does not exist a cure for it nowadays, unfortunately. Described by Steele, Richardson and Olszewski in 1972, it is characterized by the progressive death of different areas of the brain. The purposes of this article are to make this disease known, which is relatively unknown, and show it in the mass media and in the society to make it more visible, and to be homage for a person who died two years ago, victim of PSP. [ABSTRACT FROM AUTHOR]

Parkinsonism is defined as the presence of bradykinesia and at least one of the following: rest tremor, rigidity, or postural instability. Most of the parkinsonism seen at neurological centers represent Parkinson's disease (PD). Differential diagnosis can be complicated, particularly in early stages when features of PD may overlap with those seen in other movement disorders. Atypical parkinsonian disorders are a group of clinical syndromes with atypical features beyond the classic PD. Progressive supranuclear palsy (PSP), multiple system atrophy (MSA), dementia with Lewy bodies (DLB) and corticobasal degeneration (CBD) are the most prevalent. They all share parkinsonian features which make early diagnosis a challenge for the neurologist. However, it is important to guide management and predict prognosis. [ABSTRACT FROM AUTHOR]

La atrofia multisistèmica constituye un trastorno neurodegenerativo esporádico de etiología no precisada que se caracteriza por parkinsonismo, trastornos cerebelosos, disfunción autonómica y piramidalismo; los hallazgos patológicos comprenden pérdida celular y gliosis en las neuronas estriatonígricas, olivopontocerebelosas y autonómicas; y la presencia de inclusiones intracitoplasmáticas oligodendrogliales y neuronales, ubiquitina, tau y alfasinucleína positivas. Afecta tanto a hombres como a mujeres, con inicio en la sexta década de la vida como promedio y una prevalencia de 4/100 000. Se presentaron los últimos criterios diagnósticos de atrofia multisistémica y el caso clínico de un paciente de 65 años con un cuadro progresivo, de 4 años de evolución, ataxia cerebelosa progresiva, síndrome rígido acinético, disfunción autonómica, signos piramidales y mala respuesta a la levodopa, con imágenes de resonancia magnética que muestran atrofia de vermis, hemisferios cerebelosos, tallo cerebral (puente) e hipointensidad de ambas regiones putaminales en t2. Se concluyó el caso con el diagnóstico de atrofia multisistémica tipo C.The multisystem atrophy is a sporadic neurodegenerative disorder of unknown origin characterized by parkinsonism, cerebellar disorders, autonomic dysfunction and pyramidal disease, provoked by a cellular loss and gliosis in the nigrostriatal, olivopontocerebellar and autonomic neurons and the presence of oligodendroglia and neuronal intracytoplasmic positive inclusions, ubiquitin, tau and alpha-sinuclein affecting men and women starting as average during the sixth decade of life and a prevalence of 4/100 000. The last diagnostic criteria of multisystem atrophy were showed as well as the clinical case of a patient aged 65 with a progressive picture of 4 years of evolution, progressive cerebellar ataxia, a rigid akinetic syndrome autonomic dysfunction, pyramidal signs and a poor response to levodopa with magnetic resonance images showing vermis atrophy, cerebellar hemispheres, cerebral stem (bridge) and hipointensity of both putamen regions in T2. We conclude that case was diagnosed with type C multisystem atrophy.

The authors present the original Charcot’s description of postural instability in Parkinson’s disease as well as the evolution of this sign after 120 years of Charcot’s death.

In 2002, after analyzing 28 HIV-positive patients with movement disorders we emphasized the decreasing not only of Parkinsonism but also of other involuntary movements in HIV patients in the last few years. The objective of this study is to compare the clinical results between HIV-positive patients with Parkinsonism before and after HAART. In 14 years (1986-1999) 2,460 HIV-positive patients were seen in our Hospital 14 (0.6%) of which presented with Parkinsonism. Eight years after (2000-2007) 970 HIV positive patients were seen and only two (0.2%) had Parkinsonism. We conclude that after the introduction of HAART there was an evident decrease in AIDS-related Parkinsonism.No ano de 2002, após analisarmos 28 pacientes HIV-positivos que apresentavam distúrbios do movimento, enfatizamos o declínio, não só do parkinsonismo, como também de outros movimentos involuntários em pacientes infectados pelo HIV nos últimos anos. O objetivo deste estudo é comparar os resultados clínicos entre pacientes HIV-positivos com parkinsonismo antes e depois da introdução do esquema HAART. Em 14 anos (1986-1999), 2.460 pacientes HIV-positivos foram avaliados em nosso Hospital dos quais 14 (0,6%) apresentaram parkinsonismo. Nos oito anos seguintes (2000-2007), 970 pacientes HIV-positivos foram avaliados e somente dois (0,2%) tinham parkinsonismo. Concluímos que após a introdução do esquema HAART houve evidente declínio do parkinsonismo secundário à AIDS.

The differential diagnosis of Parkinsonism based on clinical features, sometimes may be difficult. Diagnostic tests in these cases might be useful, especially magnetic resonance imaging, a noninvasive exam, not as expensive as positron emission tomography, and provides a good basis for anatomical analysis. The magnetic resonance spectroscopy analyzes cerebral metabolism, yielding inconsistent results in parkinsonian disorders. We selected 40 individuals for magnetic resonance imaging and spectroscopy analysis, 12 with Parkinson's disease, 11 with progressive supranuclear palsy, 7 with multiple system atrophy (parkinsonian type), and 10 individuals without any psychiatric or neurological disorders (controls). Clinical scales included Hoenh and Yahr, unified Parkinson's disease rating scale and mini mental status examination. The results showed that patients with Parkinson's disease and controls presented the same aspects on neuroimaging, with few or absence of abnormalities, and supranuclear progressive palsy and multiple system atrophy showed abnormalities, some of which statistically significant. Thus, magnetic resonance imaging and spectroscopy could be useful as a tool in differential diagnosis of Parkinsonism.O diagnóstico diferencial do parkinsonismo baseado em parâmetros clínicos pode ser difícil. Alguns exames complementares podem ser úteis, especialmente a ressonância magnética, um método não invasivo, de menor custo quando comparado a tomografia por emissão de pósitrons, proporcionando uma análise anatômica satisfatória. A ressonância por espectroscopia analisa o metabolismo cerebral, com resultados variáveis na literatura no estudo das síndromes parkinsonianas. Selecionamos 40 indivíduos para realização de ressonância magnética e espectroscopia, sendo 12 com doença de Parkinson, 11 com paralisia supranuclear progressiva, 7 com atrofia de múltiplos sistemas tipo parkinsoniana e 10 indivíduos sem manifestações neurológicas ou psiquiátricas (grupo controle). As escalas clínicas analisadas foram a de Hoenh e Yahr, unified Parkinson's disease rating scale e o mini-exame do estado mental. Os resultados encontrados revelaram que pacientes com doença de Parkinson e controle apresentavam em geral o mesmo aspecto por imagem enquanto os grupos paralisia supranuclear progressiva e atrofia de múltiplos sistemas com anormalidades, havendo significância estatística em algumas variáveis. A ressonância magnética e a espectroscopia podem ser úteis no diagnóstico diferencial do parkinsonismo.

Parkinson's disease (PD) is characterized by resting tremor, rigidity and bradykinesia. In 80% of cases, the disorder begins with upper limb resting tremor. However, there are some presenting atypical features that make the diagnosis even more difficult and intriguing. The disorder can have its onset below 40 years old, characterizing early-onset parkinsonism, which differential diagnosis possibilities are varied. Atypical presentations include a pure akinetic-rigid syndrome, the initial manifestations occurring in the lower limbs, and pain as the most important or sole manifestation. These atypical features are unusual, but can be seen in clinical practice. We present a 37 years old woman with early-onset parkinsonism beginning with an akinetic-rigid syndrome in the lower limbs whose first symptom was left leg pain, which diagnosis was made after 4 years of onset and after 16 referrals to several experts in different fields. We discuss these atypical features and the diagnostic pitfalls in PD.A doença de Parkinson (DP) caracteriza-se pela tríade de tremor, rigidez e bradicinesia. Em cerca de 80% dos casos inicia-se com tremor em membros superiores. Entretanto, certas atipias na apresentação desta entidade tornam seu diagnóstico ainda mais desafiador. A doença pode iniciar-se abaixo dos 40 anos de idade, caracterizando o parkinsonismo de início precoce. Apresentações atípicas incluem uma síndrome rígido-acinética pura, as manifestações inaugurais ocorrendo em membros inferiores, e uma síndrome dolorosa podendo ser um sintoma inicial proeminente ou o único sintoma. Estas atipias, apesar de infreqüentes, são encontradas na prática clínica diária. Discutimos estas características atípicas ao apresentarmos uma paciente de 37 anos com quadro rígido-acinético de instalação precoce, iniciado em membros inferiores, cujo sintoma predominante era dor, cujo diagnóstico somente foi feito após 4 anos do início e após 16 avaliações médicas por vários especialistas. Discutiremos as dificuldades diagnósticas que os médicos podem encontrar quando da avaliação de pacientes com DP.

The purpose of this study is to determine the prevalence and the patterns of movement disorders (MD) in outpatients submitted to the chronic use of cinnarizine (cz) or flunarizine (fz), and to establish the main risk factors for MD development. Over a period of 3 months, data were collected from outpatients who were chronic users of cz or fz in a municipal health institute. A total of 26 outpatients were included and all of them were submitted to a protocol that included DSM-4 diagnosis criteria for drug-induced movement disorders, parkinsonism (PK) and depression. Parkinsonism was diagnosed in 34% of the patients, PK plus akathisia, PK plus akathisia and bucco-linguo-masticatory syndrome (BLMS), isolated BLMS and dystonia were found in 4% patients each. Patients with BLMS had the highest median age and the longest average period in which they used the drugs. The affected group, when compared to the non-affected one, presented with higher rates of depression. This study demonstrates the existence of a direct relationship between the time of use of cz and fz, the age and the prevalence of PK and other MD. It also suggests that these drugs increase the incidence of depression.O objetivo deste estudo foi determinar a prevalência e os padrões de distúrbios do movimento (DM) em pacientes ambulatoriais sob uso crônico de cinarizina (cz) ou flunarizina (fz), além de estabelecer os principais fatores de risco para o seu aparecimento. Durante três meses foram coletados dados de pacientes ambulatoriais em uso de cz ou fz. Todos esses pacientes foram submetidos a protocolo pré-estabelecido que incluía critérios diagnósticos do DSM-IV para distúrbios do movimento induzido por drogas e critérios para diagnostico de depressão maior. Parkinsonismo (PK) puro foi diagnosticado em 34% dos pacientes, PK com acatisia, PK com acatisia e síndrome mastigatória bucolingual (SMBL), SMBL isoladamente e distonia, foram encontrados em 4% dos pacientes. Os pacientes com SMBL apresentavam a média de idade mais avançada, o maior tempo médio de uso das drogas, configurando-se o grupo de maior risco ao aparecimento dos DM. O grupo dos pacientes com DM apresentou maior incidência de depressão quando comparados com os não afetados. O estudo demonstra uma relação direta entre o tempo de uso da droga, a idade avançada do paciente e o surgimento dos DM. Os resultados também sugerem que estas drogas aumentam a incidência de depressão.

Taking into account the crescent interest in the field of dystonia genetics, we have organized a didactic and fast algorithm to diagnose the main forms of hereditary dystonias. The key branch of this algorithm is pointed to dystonia classification in primary, plus, or paroxysmal. The specific characteristics of each syndrome will reveal the diagnosis.

From 1986 to 1999, 2460 HIV-positive inpatients were seen in our Hospital. Neurological abnormalities were detected in 1053 (42.8%) patients. In this group, 28 (2.7%) had involuntary movements, 14 (50%) with secondary parkinsonism, six (21.4%) with hemichorea/hemiballismus, four (14.2%) with myoclonus, two (7.2%) with painful legs and moving toes, one (3.6%) with hemidystonia and one (3.6%) with Holmes' tremor. The HIV itself (12 patients), toxoplasmosis of the midbrain (1) and metoclopramide-related symptoms (1) were the most probable causes for the parkinsonism. All patients with hemichorea/hemiballismus were men and in all of them toxoplasmosis of the basal ganglia, mostly on the right side, was the cause of the involuntary movements. Generalized myoclonus was seen in two patients and they were due to toxoplasmosis and HIV-encephalopathy respectively; two others presented with spinal myoclonus. The two patients with painful legs and moving toes had an axonal neuropathy. The patient with hemidystonia suffered from toxoplasmosis in the basal ganglia and the patient with Holmes' tremor had co-infection with tuberculosis and toxoplasmosis affecting the midbrain and cerebellum. We conclude that HIV-infected patients can present almost any movement disorder. They can be related to opportunistic infections, medications, mass lesions and possibly to a direct or indirect effect of the HIV itself.De 1986 a 1999, 2460 pacientes HIV-positivos internados foram avaliados em nosso Hospital. Alterações neurológicas foram encontradas em 1053 (42,8%). Neste grupo, 28 (2,7%) exibiam movimentos involuntários, 14 (50%) com parkinsonismo secundário, seis (21,4%) com hemicoréia/hemiballismo, quatro (14,2%) com mioclonias, dois (7,2%) com painful legs and moving toes, um (3,6%) com hemidistonia e um (3,6%) com tremor de Holmes. No grupo com parkinsonismo, 12 eram, provavelmente, secundários ao HIV; um à toxoplasmose mesencefálica e outro desencadeado pela metoclopramida. Todos com hemicoréia/hemiballismo eram homens e estavam relacionados com toxoplasmose nos gânglios da base. Nos quatro pacientes com mioclonia, em dois era generalizada, relacionada, em um, com toxoplasmose e, em outro, com a encefalopatia pelo HIV; nos outros dois era de origem medular. Nos dois pacientes com painful legs and moving toes, ficou demonstrada a neuropatia axonal pela biópsia do nervo periférico. Toxoplasmose da gânglia basal estava relacionada com hemidistonia contralateral. No paciente com tremor de Holmes havia lesões no mesencéfalo e no cerebelo, secundárias à co-infecção pelo bacilo da tuberculose e pelo Toxoplasma gondii. Concluímos que diversos distúrbios do movimento podem ocorrer em pacientes infectados pelo HIV. Costumam estar relacionados às infecções oportunísticas, ao uso de certos medicamentos, às lesões com efeito de massa e, possivelmente, à ação direta ou indireta do HIV.

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Background: Carbon monoxide poisoning is a common poisoning usually caused by exposure to heating systems such as stoves, heaters and some industrial solvents. Symptoms vary according to the degree of exposure and among chronic neurological sequelae mentioned in scientific literature are late cognitive decline, parkinsonism, akinetic mutism and sleep disorders. The treatment consists in the oxygen immediately administration. Case report: A 61-year-old male who after exposure to a home heating system presented deterioration of neurological status and cyanosis. He got medical attention and a week later he began with headache, mutism and parkinsonism. He was hospitalized for treatment with levodopa, antibiotics and correction of renal failure. Currently the patient has organic brain syndrome, without parkinsonism but unable to fend for himself. Conclusion: Early diagnosis of this pathology is vital to limit the severity and development of potential complications. [ABSTRACT FROM AUTHOR]

Non Wilsonian hepatolenticular degeneration (Parkinsonism associated with cirrhosis of the liver) is a chronic encephalopathy with an engine extrapyramidal clinical spectrum due to dysfunction of basal ganglia in the context of severe liver disease. The diagnosis of the disease is underestimated by categorized within the spectrum of hepatic encephalopathy. There is evidence that the manganese deposits in the basal ganglia interfere with modulation of GABAergic and dopaminergic systems synergistically with ammonium glutamate leads to a state of neurodegeneration, with different pathophysiological idiopathic Parkinson's disease. [ABSTRACT FROM AUTHOR]

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Copyright of Cirugía y Cirujanos is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

We describe the case of a 48 year- old man in whom the clinical features, CT and MR scans were suggestive of a brain tumor but, posteriorly, another MRI study, CSF examination and brain biopsy supported the diagnosis of multiple sclerosis. Interestingly, this patient presented parkinsonian features, probably in connection with the underlying disease.Os autores descrevem o caso de um paciente com 48 anos de idade cujos sinais e sintomas, TC e RM foram sugestivos de tumor cerebral mas, posteriormente, nova RM, estudo do LCR e biopsia cerebral sustentaram o diagnóstico de esclerose múltipla. Curiosamente, no transcurso da enfermidade este paciente apresentou parkinsonismo, provavelmente relacionado com a doença de base.

As desordens do movimento caracterizam-se pelo rompimento da harmonia existente entre os múltiplos sistemas cerebrais e musculares responsáveis pela integração do indivíduo com o seu meio e espécie. Dentre os sistemas cerebrais, os gânglios basais são a sede das manifestações motoras presentes tanto nas hipercinesias quanto nas hipocinesias. A busca de agentes etiológicos para o parkinsonismo em muito tem contribuído para o conhecimento da organização neuroanatômica e neuroquímica dos gânglios basais, sugerindo a existência de múltiplos sub-sistemas dentro do circuito córtex-gânglios da base-tálamo-córtex. Nesta revisão apresentamos os principais sistemas e sub-sistemas envolvidos no parkinsonismo.Movement disorders, in general, are characterized by a breakdown in the integrated coordination of posture and motion by multiple brain and muscular systems. In the expression of parkinsonism, in particular, critical and altered structures such as substantia nigra, appear to be related to the cortex-basal ganglia and thalamus-basal ganglia sub-circuits.

O emprego de modelos experimentais de parkinsonismo tem contribuído não só para explicar o conhecimento das funções dos gânglios basais como também tem permitido o surgimento de várias hipóteses para explicar os processos neurodegeneratives do sistema nervoso central. Nesta revisão são apresentados e discutidos os modelos de parkinsonismo que utilizam neurotoxins como a 6-hidroxidopamina, MPTP e o manganês.The study of experimental models of parkinsonism has contributed to the knowledge of basal ganglia functions, as well as to the establishment of several hypothesis for the explanation of the cause and expression of central neurodegenerative disorders. In this review we present and discuss several models such as 6-hydroxydopamine, MPTP and manganese, all of them widely used to characterize the behavioral, cellular and molecular mechanisms of parkinsonism.

Doença de Parkinson (DP) é a causa mais freqüente de parkinsonismo em nosso meio, responsável por 58% dos casos. Devem-se excluir outras causas, como uso de drogas antidopaminérgicas (20% dos casos). Levodopa é o agente mais importante para o tratamento de DP. Há controvérsia sobre quando se introduzir esta droga mas deve-se reservá-la para quando surgir substancial comprometimento funcional. Drogas acessórias são anticolinérgicos, úteis para o tremor; amantadina, para bradicinesia e rigidez; e agonistas dopaminérgicos que ajudam no manuseio de complicações da levodopa. A selegelina tem discreta ação sintomática e possível ação neuroprotetora. O tratamento de DP pode ser complicado por falha primária, falha secundária e problemas do uso da levodopa. A falha primária pode ser causada por uso de agentes antidopaminérgicos, presença de tremor de repouso severo ou erro diagnóstico. A causa mais comum de falha secundária é progressão da DP. As principais complicações do uso da levodopa são flutuações e discinesias. Outros problemas comuns são disautonomia, depressão, psicose e demência. Fenomenologia e manuseio destas complicações são discutidos. Perspectivas futuras incluem cirurgias para reversão de patologia.

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Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

INTRODUCTION: Drugs with anticholinergic effects have been considered for many years as first-line medications for treatment and prevention of movement disorders induced by neuroleptics. However, its usefulness is not well established. OBJECTIVE: TO describe the experience with trihexyphenidyl therapy for the prevention of dyskinesias in patients with chronic psychosis medicated with classical antipsychotic drugs. METHODS: A quasi-experimental, observational study was performed on patients with chronic psychosis medicated with fluphenazine decanoate and other neuroleptics, under treatment or not with trihexyphenidyl. RESULTS: A total of 64 patients were included, among whom schizophrenia predominated; 56.2% (36 cases) was medicated with trihexyphenidyl from the start of treatment with fluphenazine decanoate. The mean treatment period was 66.9 months. In 60.9% (39 patients) some variant of movement disorders were found and these were more frequent in cases medicated with trihexyphenidyl (61.5 vs. 38.5%). The predominant movement disorders were parkinsonism (n = 19, 29.7%), followed by akathisia (n = 7, 10.9%) and tardive dyskinesia (n = 4, 11.1%). CONCLUSION: In this observational study it was not evidenced the usefulness of trihexyphenidyl in the prophylaxis of neuroleptic-induced dyskinesias. [ABSTRACT FROM AUTHOR]

We studied 1086 AIDS patients in the last six years. Of these 389 (35.82%) had neurological manifestation and 7 (1.8%) male patients had abnormal involuntary movements (parkinsonism in 3, hemichorea-hemiballism in 2, spinal myoclonus in 1 and rubral tremor in another). All patients were men, 5 white and 2 black. Four were homosexual, 2 drug-users and 1 bisexual. The mean age was 33.14 years. The time between AIDS diagnosis and the onset of movement disorders was 23.8 months in 5 patients and in 2 it was the first symptom. The parkinsonian patients did not show any opportunistic infection in conection with the neurological symptoms but in the remaining four cases this relationship was suggested. The data showed that not only the opportunistic infection but also the AIDS virus may play an important role on the development of involuntary movements.

Paralisia supranuclear progressiva (PSP) foi inicialmente identificada como entidade distinta por Richardson, Steele e Olszewski há cerca de 25 anos. Observações clínicas subsequentes não apenas têm confirmado mas, também acrescentaram novas informações aos relatos pioneiros. PSP pode ser descrita como transtorno neurológico gradualmente incapacitante com rigidez extrapiramidal, bradieinesia, dificuldade na marcha com quedas frequentes, paralisia pseudo-bulbar, demência e oftalmoplegia supranuclear característica. Incide em pessoas na meia idade ou idosas, sem distinção racial ou sexual. PSP é importante causa de parkinsonismo e sua etiologia permanece obscura. Neste registro é apresentado o caso de um paciente de Santa Catarina, exibindo inequívoca evidência clínica de PSP. Este é o primeiro caso descrito neste Estado onde, baseando-se em recentes premissas epidemiológicas, poderemos supor a existência de pelo menos mais 50 pacientes com PSP. Em complementação, é apresentada revisão da literatura, com ênfase a aspectos clínicos e terapêuticos da PSP.

Epidemiological data in humans and studies in animal models of Parkinson's disease (PD) suggest that sporadic forms of the disorder are not strictly genetic in nature but most likely because of combined environmental exposures over the period of the life-span coupled with increased genetic susceptibilities. Exposure to agricultural chemicals such as paraquat, diquat, maneb, rotenone, and dieldrin has been separately suggested as potential risk factors for sporadic forms of the disease. In addition, exposure to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), a by-product of synthetic heroine causes a clinical condition almost identical to PD. Interestingly, paraquat and MPTP share striking structural similarities. There is a growing consensus that oxidative stress and inflammation plays a key role in PD. Using a rodent model we found that melatonin attenuates the increases in lipid peroxidation products, nitric oxide catabolites and ciclooxygenase 2 activity elicited by MPTP injection. These data suggest that neuroprotective effects of melatonine are partly attributed to its antioxidant and anti-inflammatory action. [ABSTRACT FROM AUTHOR]