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1.
Gac Med Mex ; 154(6): 719-726, 2018.
Artigo em Espanhol | MEDLINE | ID: mdl-30532089

RESUMO

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.


Assuntos
Doença de Parkinson/história , História do Século XIX , História do Século XX , História do Século XXI , Humanos , Doença de Parkinson/fisiopatologia , Doença de Parkinson/terapia
2.
Neurologia ; 29(6): 327-33, 2014.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-24139386

RESUMO

OBJECTIVE: To assess a group of patients with parkinsonism using serial studies with FP-CIT, basically the initial false negative results. METHODS: Restrospective study of 92 patients (55 men and 37 women) who had undergone 2 different FP-CIT studies because of discrepancies between study results and clinical progression. The mean elapsed time between the studies was 26 months (SD: 6). We performed a semi-quantitative study using the patient's clinical history and the available literature to analyse discrepant cases with a normal initial study and subsequent pathological findings. RESULTS: A total of 184 studies were completed for 92 patients; 11 of those 92 showed discrepancies between initial and subsequent studies. Among the 11 discrepant cases, 7 showed a normal initial study and pathological findings at a later date. Analysis of the predominant clinical features that might explain this behaviour revealed that 4 of these 7 subjects presented tremor-dominant parkinsonism. Regarding the rest, 1 presented early stage parkinsonism and was treated with antidopaminergic agents; 1 was classified as probable multisystem atrophy type C, and the third showed clinical signs of atypical parkinsonism without any causes of those signs being identified. CONCLUSIONS: Serial FP-CIT studies are unnecessary in the large majority of cases, but they may be justifiable in certain clinical situations.


Assuntos
Tremor Essencial/diagnóstico , Transtornos Parkinsonianos/diagnóstico , Compostos Radiofarmacêuticos , Tomografia Computadorizada de Emissão de Fóton Único/métodos , Tropanos , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
3.
Med Clin (Barc) ; 2024 Jul 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38955605

RESUMO

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.

4.
Neurologia (Engl Ed) ; 39(7): 555-563, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39232593

RESUMO

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.


Assuntos
Gânglios da Base , Cerebelo , Transtornos Parkinsonianos , Cerebelo/fisiopatologia , Gânglios da Base/fisiopatologia , Animais , Transtornos Parkinsonianos/fisiopatologia , Modelos Animais de Doenças , Masculino , Tremor/fisiopatologia
5.
Arch Soc Esp Oftalmol (Engl Ed) ; 99(7): 304-308, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38768849

RESUMO

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.


Assuntos
Paralisia Supranuclear Progressiva , Humanos , Paralisia Supranuclear Progressiva/diagnóstico , Masculino , Idoso , Levodopa/uso terapêutico , Doença de Parkinson/complicações , Doença de Parkinson/tratamento farmacológico , Doença de Parkinson/diagnóstico
6.
Neurologia (Engl Ed) ; 38(9): 609-616, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37996211

RESUMO

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.


Assuntos
Doenças do Sistema Nervoso Autônomo , Atrofia de Múltiplos Sistemas , Transtornos Parkinsonianos , Humanos , Atrofia de Múltiplos Sistemas/diagnóstico , Atrofia de Múltiplos Sistemas/patologia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Ataxia
7.
Neurologia (Engl Ed) ; 2022 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-36216226

RESUMO

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.

8.
Neurologia (Engl Ed) ; 2021 May 26.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-34052041

RESUMO

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.

9.
Neurologia (Engl Ed) ; 35(8): 563-567, 2020 Oct.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29291907

RESUMO

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.


Assuntos
Doença de Parkinson Secundária/diagnóstico , Doença de Parkinson/diagnóstico , Ultrassonografia Doppler Transcraniana/métodos , Idoso , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Neuroimagem , Doenças Vasculares
10.
Cir Cir ; 86(1): 96-98, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30951041

RESUMO

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.


Assuntos
Hiperparatireoidismo Primário/complicações , Hiperparatireoidismo Primário/cirurgia , Paratireoidectomia , Transtornos Parkinsonianos/etiologia , Idoso , Feminino , Humanos , Resultado do Tratamento
11.
Arq. neuropsiquiatr ; 82(6): s00431777775, 2024. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1564002

RESUMO

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


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

12.
Rev Esp Geriatr Gerontol ; 54(5): 251-256, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31324404

RESUMO

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.


Assuntos
Doença de Parkinson/diagnóstico , Paralisia Supranuclear Progressiva/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Feminino , Humanos , Masculino
13.
Cir Cir ; 86(1): 105-107, 2018.
Artigo em Espanhol | MEDLINE | ID: mdl-29681636

RESUMO

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.


Assuntos
Hiperparatireoidismo Primário/complicações , Paratireoidectomia , Transtornos Parkinsonianos/etiologia , Adenoma/complicações , Adenoma/cirurgia , Idoso , Encéfalo/patologia , Cálcio/fisiologia , Transtornos Cognitivos/etiologia , Demência/diagnóstico , Erros de Diagnóstico , Feminino , Humanos , Hipercalcemia/etiologia , Hiperparatireoidismo Primário/cirurgia , Imageamento por Ressonância Magnética , Neoplasias das Paratireoides/complicações , Neoplasias das Paratireoides/cirurgia , Recuperação de Função Fisiológica
14.
Rev. chil. neuro-psiquiatr ; 60(1): 62-74, mar. 2022. tab
Artigo em Espanhol | LILACS | ID: biblio-1388421

RESUMO

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.


Assuntos
Humanos , Doença de Parkinson/fisiopatologia , Transtornos Urinários/fisiopatologia , Doença de Parkinson/tratamento farmacológico , Transtornos Urinários/diagnóstico , Transtornos Urinários/tratamento farmacológico , Bexiga Urinaria Neurogênica
15.
Rev Esp Med Nucl Imagen Mol ; 33(4): 215-26, 2014.
Artigo em Espanhol | MEDLINE | ID: mdl-24731551

RESUMO

Functional Neuroimaging has been traditionally used in research for patients with different Parkinsonian syndromes. However, the emergence of commercial radiotracers together with the availability of single photon emission computed tomography (SPECT) and, more recently, positron emission tomography (PET) have made them available for clinical practice. Particularly, the development of clinical evidence achieved by functional neuroimaging techniques over the past two decades have motivated a progressive inclusion of several biomarkers in the clinical diagnostic criteria for neurodegenerative diseases that occur with Parkinsonism. However, the wide range of radiotracers designed to assess the involvement of different pathways in the neurodegenerative process underlying Parkinsonian syndromes (dopaminergic nigrostriatal pathway integrity, basal ganglia and cortical neuronal activity, myocardial sympathetic innervation), and the different neuroimaging techniques currently available (scintigraphy, SPECT and PET), have generated some controversy concerning the best neuroimaging test that should be indicated for the differential diagnosis of Parkinsonism. In this article, a panel of nuclear medicine and neurology experts has evaluated the functional neuroimaging techniques emphazising practical considerations related to the diagnosis of patients with uncertain origin parkinsonism and the assessment Parkinson's disease progression.


Assuntos
Neuroimagem Funcional , Transtornos Parkinsonianos/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Tomografia Computadorizada de Emissão de Fóton Único , Algoritmos , Diagnóstico Diferencial , Humanos , Guias de Prática Clínica como Assunto
16.
Semergen ; 40(6): 305-12, 2014 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-24556169

RESUMO

OBJECTIVES: 1) To determine the prevalence of Parkinson syndromes in the Guadalajara Health Area and its Basic Health Zones, as well as the typology of the Parkinson's disease; 2) to determine the distribution of antiparkinsonian medication use in the whole Area, and 3) to evaluate the cost per person and per year of this use according to the criteria of sex and age. MATERIAL AND METHOD: A descriptive cross-sectional study including 1,352 subjects affected by parkinsonism in the Guadalajara Area of both sexes and all ages. The variables measured were age, sex, environment, diagnosis, typology of the Parkinson's disease using the Hoehn and Yahr index, treatment, total cost and mean cost of the treatment per person per year. Prevalences were calculated, and the appropriate descriptive statistics were used. RESULTS: The prevalence of parkinsonism was 585/10(5) inhabitants, being higher in a rural environment (P<.05), in females (P<.01) and in subjects over 90 years (P<.01). The majority suffered from Parkinson's disease (P<.001), of whom 43.4% had symptoms equivalent to Yahr grade II (P<.001). The active ingredient most used was levodopa/carbidopa (51.3%) (P<.001) and the mean drug cost per person was 514.37€. CONCLUSIONS: The prevalence of parkinsonism is similar to that in the rest of the country, although in our study there is a predominance of females and it is in a rural environment. Levodopa is the drug most used, and the mean therapeutic cost per person is similar to the rest of Spain.


Assuntos
Antiparkinsonianos/uso terapêutico , Doença de Parkinson/epidemiologia , Transtornos Parkinsonianos/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Antiparkinsonianos/economia , Criança , Estudos Transversais , Custos de Medicamentos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/tratamento farmacológico , Doença de Parkinson/economia , Transtornos Parkinsonianos/tratamento farmacológico , Transtornos Parkinsonianos/economia , Prevalência , Distribuição por Sexo , Espanha/epidemiologia , Adulto Jovem
17.
Gac. méd. Méx ; 155(1): 58-62, Jan.-Feb. 2019. graf
Artigo em Espanhol | LILACS | ID: biblio-1286460

RESUMO

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.


Assuntos
Humanos , Doenças Cardiovasculares/genética , Doenças Neurodegenerativas/genética , Ataxina-2/genética , Biomarcadores/metabolismo , Doenças Cardiovasculares/fisiopatologia , Doenças Neurodegenerativas/fisiopatologia , Diabetes Mellitus Tipo 2/fisiopatologia , Diabetes Mellitus Tipo 2/genética
18.
Rev. ecuat. neurol ; 27(3): 69-73, sep.-dic. 2018. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1004048

RESUMO

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.

19.
Rev. bras. ciênc. esporte ; 39(4): 450-457, out.-dez. 2017. tab
Artigo em Português | LILACS | ID: biblio-898036

RESUMO

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.

20.
Rev. Kairós ; 20(2): 135-160, jun. 2017. ilus
Artigo em Português | LILACS | ID: biblio-884011

RESUMO

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.


Assuntos
Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Doenças do Sistema Nervoso Central , Estudos Clínicos como Assunto , Transtornos Parkinsonianos , Paralisia Supranuclear Progressiva
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