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1.
Arq Neuropsiquiatr ; 82(5): 1-6, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38811023

RESUMEN

BACKGROUND: Parkinson's disease (PD) causes motor and non-motor symptoms such as hyposmia, which is evaluated through olfactory tests in the clinical practice. OBJECTIVE: To assess the feasibility of using the modified Connecticut Chemosensory Clinical Research Center (mCCCRC) olfactory test and to compare its performance with the Sniffin' Sticks-12 (SS-12, Burghart Messtechnik GmbH, Wedel, Germany) test. METHODS: A transversal case-control study in which the patients were divided into the PD group (PDG) and the control group (CG). The cost and difficulty in handling substances to produce the mCCCRC test kits were evaluated. Sociodemographic characteristics, smoking habits, past coronavirus disease 2019 (COVID-19) infections, self-perception of odor sense, and cognition through the Montreal Cognitive Assessment (MoCA) were also evaluated. The PDG was scored by part III of the Unified Parkinson's Disease Rating Scale (UPDRS-III) and the Hoehn and Yahr Scale (H&Y) scale. Correlations were assessed through the Spearman rank correlation coefficient test (ρ, or rho). RESULTS: The mCCCRC test was easily manufactured and handled at a cost ten times lower compared with the SS-12. The groups (PDG: n = 34; CG: n = 38) were similar in terms of age, sex, level of schooling, smoking habits, and history of COVID-19. The tests results showed moderate correlation (rho = 0.65; p < 0.0001). The CG presented better cognitive performance and scored better in both tests (p < 0.0001). There was a tendency for a negative correlation with age, but good correlation with the MoCA (p = 0.0029). The results of the PDG group showed no correlation with olfactory results and motor performance or disease duration. The self-perception of hyposmia was low in both groups. CONCLUSION: The mCCCRC is an easy-to-apply and inexpensive method that demonstrated a similar performance to that of the SS-12 in evaluating olfaction in PD patients and healthy controls.


ANTECEDENTES: A doença de Parkinson (DP) cursa com sintomas motores e não motores como a hiposmia, que é avaliada por diferentes testes olfativos na prática clínica. OBJETIVO: Avaliar a viabilidade do teste olfatório Connecticut Chemosensory Clinical Research Center modificado (mCCCRC) e compará-la à do teste Sniffin' Sticks-12 (SS-12, Burghart Messtechnik GmbH, Wedel, Alemanha). MéTODOS: Estudo transversal de caso-controle em que os pacientes foram divididos no grupo DP (GDP) e no grupo controle (GC). O custo e as dificuldades no manuseio das substâncias necessárias para a produção dos kits do teste mCCCRC foram avaliados. Características sociodemográficas, tabagismo, histórico de infecção por doença do coronavírus 2019 (coronavírus disease 2019, COVID-19, em inglês), autopercepção do olfato e cognição pelo Montreal Cognitive Assessment (MoCA) também foram avaliados. O GDP foi avaliado pela parte III da Unified Parkinson's Disease Rating Scale (UPDRS-III) e pela escala de Hoehn and Yahr (H&Y). As correlações utilizaram o teste do coeficiente de correlação de postos de Spearman (ρ, ou rho). RESULTADOS: O mCCCRC foi facilmente poroduzido e manipulado com custo dez vezes inferior ao do SS-12. Os grupos (GDP: n = 34; GC: n = 38) eram similares em termos de idade, sexo, escolaridade, tabagismo e histórico de COVID-19. Os resultados obtidos em ambos os testes mostraram excelente correlação (rho = 0.65; p < 0.0001). O GC teve um desempenho cognitivo melhor e pontuou melhor nos dois testes (p < 0.0001). Houve uma tendência a uma correlação negativa com a idade, mas boa correlação com a pontuação no MoCA (p = 0.0029). Os resultados olfativos do GDP não mostraram correlação com desempenho motor ou duração da doença. A autopercepção de hiposmia foi baixa em ambos os grupos. CONCLUSãO: O mCCCRC é um teste de fácil aplicação, baixo custo, e apresentou um desempenho semelhante ao do SS-12 na avaliação olfativa de pacientes com DP e controles saudáveis.


Asunto(s)
Anosmia , COVID-19 , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/fisiopatología , Masculino , Femenino , Estudios de Casos y Controles , Anciano , Persona de Mediana Edad , COVID-19/complicaciones , Anosmia/etiología , Anosmia/fisiopatología , Estudios Transversales , Análisis Costo-Beneficio , Estudios de Factibilidad , Olfato/fisiología , SARS-CoV-2
2.
Brain Sci ; 13(5)2023 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-37239181

RESUMEN

BACKGROUND: A correlation between worse functional outcomes in Parkinson's disease (PD) patients with cerebrovascular disease (CVD) or the Akinetic-rigid phenotype has been argued in recent studies. We aimed to evaluate the association of cerebral hemodynamics impairments, assessed by Transcranial Color-coded Doppler sonography (TCCS), on PD patients with different phenotypes of the disease and with risk factors for CVD. METHODOLOGY: Idiopathic PD patients (n = 51) were divided into motor subtypes: Akinetic-rigid (AR) (n = 27) and Tremor-dominant (TD) (n = 24) and into two groups regarding vascular risk factors: when ≥2 were present (PDvasc) (n = 18) and <2 (PDnvasc) (n = 33). In a parallel analysis, the Fazekas scale on brain magnetic resonance imaging (MRI) was applied to a sample to assess the degree of leukoaraiosis. TCCS examinations were prospectively performed obtaining middle cerebral artery Mean Flow Velocities (Vm), Resistance Index (RI), and Pulsatility Index (PI). The Breath-Holding Index (BHI) was calculated to assess cerebrovascular reactivity (cVR). Standardized functional scales were administered (UPDRS III and Hoehn&Yahr). RESULTS: The phenotype groups were similar in age, disease duration and demographic parameters, but there were significantly higher H&Y scores than TD group. cVR was impaired in 66.7% of AR vs. 37.5% of TD. AR group exhibited lower BHI (0.53 ± 0.31 vs. 0.91 ± 0.62; p = 0.000), lower Vm after apnea (44.3 ± 9.0 cm/s vs. 53.4 ± 11.4 cm/s; p = 0.003), higher PI (0.91 ± 0.26 vs. 0.76 ± 0.12; p = 0.000) and RI (0.58 ± 0.11 vs. 0.52 ± 0.06; p = 0.021). PDvasc group showed higher PI (0.98 vs. 0.76; p = 0.001) and higher frequency of altered cVR (72.2% vs. 42.2%; p = 0.004). There was a significant predominance of higher values on Fazekas scale in the PDvasc group. We found no difference between the Fazekas scale when comparing motor subtypes groups but there was a trend toward higher scores in the AR phenotype. CONCLUSIONS: TCCS, a cost-effective method, displayed impaired cVR in Parkinsonian patients with risk factors for CVD with higher degree of MRI leukoaraiosis. PD patients with the AR disease phenotype also presented impaired cVR on TCCS and greater functional impairment, although with just a trend to higher scores on MRI Fazekas.

3.
Arq Neuropsiquiatr ; 80(3): 316-329, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-35319667

RESUMEN

The treatment of Parkinson's disease (PD) is challenging, especially since it is considered highly individualized. The Brazilian Academy of Neurology has recognized the need to disseminate knowledge about the management of PD treatment, adapting the best evidence to the Brazilian reality. Thus, the main published treatment guidelines were reviewed based on the recommendations of group from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology.


Asunto(s)
Neurología , Enfermedad de Parkinson , Academias e Institutos , Brasil , Consenso , Humanos , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/terapia
4.
Arq. neuropsiquiatr ; 80(3): 316-329, Mar. 2022. tab
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1383867

RESUMEN

ABSTRACT The treatment of Parkinson's disease (PD) is challenging, especially since it is considered highly individualized. The Brazilian Academy of Neurology has recognized the need to disseminate knowledge about the management of PD treatment, adapting the best evidence to the Brazilian reality. Thus, the main published treatment guidelines were reviewed based on the recommendations of group from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology.


Resumo O tratamento da doença de Parkinson (DP) constitui um desafio, especialmente por ser considerado muito individualizado. A Academia Brasileira de Neurologia (ABN) identificou a necessidade de disseminar o conhecimento sobre o manejo do tratamento da DP, adaptando as melhores evidências à realidade brasileira. Assim, foi realizada uma revisão sobre as principais orientações de tratamento publicadas, baseada nas recomendações elaboradas por um grupo de especialistas em transtornos do movimento do departamento científico da ABN.

5.
Parkinsons Dis ; 2021: 1713496, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34650786

RESUMEN

Recent epidemiological studies have revealed a correlation between atypical features and worse functional outcomes in Parkinson's disease (PD) patients with cerebrovascular disease (CVD). We aimed to evaluate the brain hemodynamics of PD patients with risk factors for CVD using Doppler ultrasonography. In this prospective pilot study, we randomly included 27 outpatients diagnosed with PD. Transcranial color-coded sonography (TCCS) examinations were performed, obtaining measurements of middle cerebral artery mean flow velocities (Vm), the resistance index (RI), and the pulsatility index (PI). The breath-holding index (BHI) was used to assess cerebrovascular reactivity (cVR). Standardized functional scales (UPDRS III, Hoehn & Yahr scale, and MoCA) were administered. The patients were divided into two groups: those with two or more vascular risk factors (PDvasc) and those with fewer than two vascular risk factors (PDnvasc). Patients in the PDvasc group showed higher PI (1.00 vs. 0.85; p=0.020), RI (0.59 vs. 0.5; p=0.05), H&Y mean (2.4 vs. 1.4; p=0.036), higher frequency of altered cVR (90.9% vs. 25.0%; p=0.001), and lower BHI (0.46 vs. 1.01; p=0.027). We also divided the patients in other two groups: one with patients with classical and another with akinetic-rigid PD clinical type. Patients with the akinetic-rigid type of PD had significantly higher RI (0.60 vs. 0.51; p=0.03), PI (0.99 vs. 0.77; p=0.03), higher frequency of altered cVR (80% vs. 35%; p=0.02), and lower BHI (0.48 vs. 0.96; p=0.05) than patients with classic-type PD. We concluded that TCCS displays impaired cerebrovascular reactivity and a more severe disease pattern in Parkinsonian patients with two or more risk factors for CVD and in the akinetic-rigid type. Doppler ultrasonography may be a useful tool in a clinical setting to investigate PD patients.

6.
Neurobiol Aging ; 74: 236.e7-236.e8, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30342766

RESUMEN

Robust evidence on the involvement of genetic factors in the etiology of Parkinson's disease (PD) expands our knowledge about monogenic causes that contribute for this important neurodegenerative disorder. Mutations in the CHCHD2 gene have been linked to autosomal dominant forms of PD, although there is still lack of evidence for CHCHD2 variants leading to the disease in mixed populations as those from South America. To assess the contribution of CHCHD2 as a causal factor for familial PD in Brazil, one of the most heterogeneous populations in the world, we conducted the first molecular analysis of the CHCHD2 gene in a cohort of 122 index cases from Brazilian families with autosomal dominant forms of PD. Genomic DNA was isolated from peripheral blood and the 4 exons of the CHCHD2 gene, and their intron-exon boundaries were analyzed by bidirectional Sanger sequencing. No pathogenic or risk variants were found, suggesting that genetic variants of CHCHD2 are not a common cause of familial PD in Brazilian patients.


Asunto(s)
Estudios de Asociación Genética , Proteínas Mitocondriales/genética , Mutación , Enfermedad de Parkinson/genética , Factores de Transcripción/genética , Adulto , Anciano , Brasil , Estudios de Cohortes , Proteínas de Unión al ADN , Exones/genética , Femenino , Pruebas Genéticas , Humanos , Masculino , Persona de Mediana Edad
7.
Rev. bras. neurol ; 54(3): 16-21, jul.-ago. 2018. ilus, tab
Artículo en Portugués | LILACS | ID: biblio-948070

RESUMEN

A sialorreia/ptialismo é um sintoma não motor frequente da doença de Parkinson, que pode causar impacto na saúde e na qualidade de vida dos pacientes. O sintoma decorre da combinação da disfagia com disautonomia e, muitas vezes, também do efeito adverso de drogas frequentemente utilizadas no tratamento de sintomas da doença, como por exemplo, os antipsicóticos atípicos e os inibidores da acetilcolinesterase. Diversas opções terapêuticas são utilizadas na prática clínica para controle da sialorreia, dentre elas, drogas anticolinérgicas ou antagonistas dos receptores adrenérgicos, injeção de toxina botulínica, cirurgia, radioterapia e terapias comportamentais e fonoaudiológicas. Este trabalho faz uma revisão das propostas terapêuticas até o presente momento para controlar a secreção de saliva dos pacientes com doença de Parkinson. A injeção de toxina botulínica nas glândulas salivares guiada por ultrassom é a opção com mais evidência de eficácia e segurança, de acordo com os últimos estudos.


Sialorrhea is a frequent nonmotor symptom in Parkinson´s disease (PD) that influences the patients' health and quality of life. The symptom arises from a combination of difficulty in swallowing saliva, autonomic dysfunction or as a side effect of frequent used drugs to control symptoms of the disease, as for example, atypical antipsychotics and acetylcholinesterase inhibitors. In clinical practice, different therapeutic approaches are used to control sialorrhea, such as anticholinergic or beta adrenergic antagonistic drugs, botulinum toxin injection, surgery, radiotherapy, behavioral psychotherapy and speech therapy. This paper reviews the therapeutic options available until now to control the loss of saliva from PD patient. Botulinum toxin injection in the salivary glands guided by ultrasound shows the best efficacy and security profile, according to the last published data.


Asunto(s)
Humanos , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/diagnóstico , Sialorrea/etiología , Sialorrea/tratamiento farmacológico , Toxinas Botulínicas/uso terapéutico , Glándula Parótida/efectos de los fármacos , Toxinas Botulínicas/administración & dosificación , Antagonistas Colinérgicos/uso terapéutico
8.
J Neurol Sci ; 381: 160-164, 2017 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-28991672

RESUMEN

BACKGROUND: Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors, as mutations in LRRK2 and GBA genes. In this sense, the clarification of the genotype-phenotype correlations in PD has important implications in predicting prognosis and can contribute to the development of specific therapeutic approaches. METHODS: Here, we conducted the first comparative analysis of motor and non-motor features in 17 LRRK2 and 22 GBA mutation carriers and 93 non-carriers unrelated PD patients from Brazil, a highly admixed population. RESULTS: Significant differences were found between the three groups. LRRK2 PD patients presented more occurrence of familiar history. Resting tremor was observed in a lower frequency in GBA mutation carries. In contrast, gait freezing and dysautonomia was present in lower frequencies in LRRK2 carriers. Besides that, LRRK2 and GBA mutation carriers showed a higher incidence of depressive symptoms and a younger age at onset, when compared to non-carriers. CONCLUSION: Our results suggest that specific mutations in GBA and LRRK2 influence the clinical signs of the disease, with significant implications for handling of specific patient groups.


Asunto(s)
Glucosilceramidasa/genética , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/genética , Mutación , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/fisiopatología , Adulto , Anciano , Anciano de 80 o más Años , Brasil , Estudios de Cohortes , Femenino , Estudios de Asociación Genética , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Adulto Joven
9.
Neuromolecular Med ; 19(2-3): 293-299, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28567584

RESUMEN

Alzheimer's (AD) and Parkinson's diseases (PD) share clinical and pathological features, suggesting that they could have common pathogenic mechanisms, as well as overlapping genetic modifiers. Here, we performed a case-control study in a Brazilian population to clarify whether the risk of AD and PD might be influenced by shared polymorphisms at PICALM (rs3851179), CR1 (rs6656401) and CLU (rs11136000) genes, which were previously identified as AD risk factors by genome-wide association studies. For this purpose, 174 late-onset AD patients, 166 PD patients and 176 matched controls were genotyped using TaqMan® assays. The results revealed that there were significant differences in genotype and allele frequencies for the SNP PICALM rs3851179 between AD/PD cases and controls, but none for CR1 rs6656401 and CLU rs11136000 intronic polymorphisms. After stratification by APOE ε4 status, the protective effect of the PICALM rs3851179 A allele in AD cases remains evident only in APOE ε4 (-) carriers, suggesting that the APOE ε4 risky allele weakens its protective effect in the APOE ε4 (+) subgroup. More genetic studies using large-sized and well-defined matched samples of AD and PD patients from mixed populations as well as functional correlation analysis are urgently needed to clarify the role of rs3851179 in the AD/PD risk. An understanding of the contribution of rs3851179 to the development of AD and PD could provide new targets for the development of novel therapies.


Asunto(s)
Enfermedad de Alzheimer/genética , Proteínas de Ensamble de Clatrina Monoméricas/genética , Enfermedad de Parkinson/genética , Polimorfismo de Nucleótido Simple , Edad de Inicio , Anciano , Apolipoproteína E4/genética , Brasil , Estudios de Casos y Controles , Clusterina/genética , Epistasis Genética , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Persona de Mediana Edad , Proteínas de Ensamble de Clatrina Monoméricas/fisiología , Receptores de Complemento 3b/genética
10.
Neurosci Lett ; 635: 67-70, 2016 Dec 02.
Artículo en Inglés | MEDLINE | ID: mdl-27777137

RESUMEN

INTRODUCTION: Amongst Parkinson's disease (PD) genetic factors, mutations in LRRK2, SNCA, VPS35 and GBA genes are recognized causes of PD. Nonetheless, few genetic screenings have been conducted in families with a history of PD consistent with autosomal dominant inheritance (ADPD), and their relevance to the etiology of PD has been poorly explored in Latin American populations, such as the Brazilian one, with a high degree of admixture. METHODS: In order to assess the contribution of specific mutations in LRRK2, SNCA, VPS35 and GBA genes to ADPD in Brazil, we conducted the first molecular evaluation in a cohort of 141 index cases from families with ADPD. Genomic DNA was isolated from peripheral blood or saliva, and the molecular analysis was performed by TaqMan allelic discrimination assays or bidirectional sequencing. RESULTS: Heterozygous mutations in LRRK2 and GBA genes were identified in 10 (7.0%) probands, and all presented typical signs of classical PD. No mutations were found in SNCA or VPS35 genes. CONCLUSION: Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. The absence of mutations in VPS35 and SNCA genes reveals that they are uncommon causes of PD in Brazil, corroborating previous studies that also failed to detect these genetic variants in PD patients from other populations. Recent discoveries of novel causative genes of autosomal dominant forms of PD expand the investigative possibilities and should be targeted on future studies.


Asunto(s)
Genes Dominantes , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/genética , Enfermedad de Parkinson/genética , Proteínas de Transporte Vesicular/genética , alfa-Sinucleína/genética , Adulto , Anciano , Anciano de 80 o más Años , Brasil , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación
11.
Neuropsychologia ; 85: 19-23, 2016 05.
Artículo en Inglés | MEDLINE | ID: mdl-26956927

RESUMEN

BACKGROUND: Jumping to conclusions due to impulsivity has been shown to be a sensitive marker for dopamine dysregulation and addictive behaviour patterns in treated patients with Parkinson's disease (PD). It is unknown whether drug naïve PD patients, who have never received dopaminergic therapy also have deficits in information sampling. METHODS: Twenty five de novo PD patients and twenty matched healthy controls were recruited and tested on the beads task, which is a validated information sampling task to assess reflection impulsivity and a temporal discounting questionnaire. RESULTS: Patients gathered significantly less information and made more irrational choices than matched controls. There was, however, no group difference on the temporal discounting questionnaire. CONCLUSIONS: Poor information sampling and irrational decision making may be an inherent component of the neuropsychological deficit in Parkinson's disease. These findings suggest that underlying impulsivity detected by a metric task is common in de novo PD.


Asunto(s)
Descuento por Demora/fisiología , Conducta Impulsiva/fisiología , Enfermedad de Parkinson/fisiopatología , Adulto , Anciano , Análisis de Varianza , Estudios de Casos y Controles , Conducta de Elección , Femenino , Humanos , Masculino , Escala del Estado Mental , Persona de Mediana Edad , Pruebas Neuropsicológicas , Desempeño Psicomotor , Encuestas y Cuestionarios
12.
eNeurologicalSci ; 5: 11-14, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29430552

RESUMEN

Botulinum toxin injections are the most effective approach for the treatment of focal dystonia. Despite growing demand and clinical indications over the years, there are few reports or publications of its use and benefit to patients seen at the Sistema Único de Saúde - SUS (Unified Health System). Analyzing the Datasus data (Unified Health System Information Department of Brazilian Ministry of Health), it was noticed that in Brazil the percentage of dystonic patient benefited from this procedure is still low. We therefore suggest some strategies to increase the dispensation of the toxin by the Brazilian Unified Health system for the dystonic patients.

13.
Parkinsonism Relat Disord ; 21(6): 586-9, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25817515

RESUMEN

BACKGROUND: Amongst Parkinson's disease-causing genetic factors, missense mutations and genomic multiplications in the gene encoding α-synuclein are well established causes of the disease, although genetic data in populations with a high degree of admixture, such as the Brazilian one, are still scarce. METHODS: In this study, we conducted a molecular screening of α-synuclein point mutations and copy number variation in the largest cohort of Brazilian patients with Parkinson's disease (n = 549) and also in twelve Portuguese and one Bolivian immigrants. Genomic DNA was isolated from peripheral blood leukocytes or saliva, and the mutational screening was performed by quantitative and qualitative real-time PCR. RESULTS: The only alteration identified was the p.E46K mutation in a 60-year-old man, born in Bolivia, with a familial history of autosomal dominant Parkinson's disease. This is the second family ever reported, in which this rare pathogenic mutation is segregating. The same mutation was firstly described ten years ago in a Spanish family with a neurodegenerative syndrome combining parkinsonism, dementia and visual hallucinations. The clinical condition of our proband reveals a less aggressive phenotype than previously described and reinforces that marked phenotypic heterogeneity is common among patients with Parkinson's disease, even among those carriers sharing the same mutation. CONCLUSION: Our findings add new insight into the preexisting information about α-synuclein p.E46K, improving our understanding about the endophenotypes associated to this mutation and corroborate that missense alterations and multiplications in α-synuclein are uncommon among Brazilian patients with Parkinson's disease.


Asunto(s)
Enfermedad de Parkinson/genética , Mutación Puntual , alfa-Sinucleína/genética , Anciano , Brasil , Familia , Femenino , Variación Genética , Genoma Humano , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/fisiopatología , Linaje , Reacción en Cadena en Tiempo Real de la Polimerasa , Índice de Severidad de la Enfermedad
15.
Dis Markers ; 35(3): 181-5, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24167364

RESUMEN

Parkinson's disease is the second most frequent neurodegenerative disorder in the world, affecting 1-2% of individuals over the age of 65. The etiology of Parkinson's disease is complex, with the involvement of gene-environment interactions. Although it is considered a disease of late manifestation, early-onset forms of parkinsonism contribute to 5-10% of all cases. In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early-onset Parkinson's disease through automatic sequencing. We identified six missense variants in PARK2 gene: one known pathogenic mutation, two variants of uncertain role, and three nonpathogenic changes. No pathogenic mutation was identified in PINK1 gene, only benign polymorphisms. All putative pathogenic variants found in this study were in heterozygous state. Our data show that PARK2 point mutations are more common in Brazilian early-onset Parkinson's disease patients (2.9%) than PINK1 missense variants (0%), corroborating other studies worldwide.


Asunto(s)
Enfermedad de Parkinson/genética , Proteínas Quinasas/genética , Ubiquitina-Proteína Ligasas/genética , Adulto , Edad de Inicio , Brasil , Estudios de Casos y Controles , Femenino , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Mutación Missense , Enfermedad de Parkinson/diagnóstico , Polimorfismo de Nucleótido Simple
16.
Arq Gastroenterol ; 50(1): 42-9, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23657306

RESUMEN

CONTEXT: Dysphagia and sialorrhea in patients with Parkinson's disease are both automatically accepted as dependent on this neurological disease. OBJECTIVE: The aim were to establish if these two complaints are a consequence or associated manifestations of Parkinson's disease. METHOD: Two Parkinson's diseases groups from the same outpatients' population were studied. Patients in the first group, with dysphagia, were studied by videofluoroscopy. The second, with sialorrhea, were studied by the scintigraphic method, RESULTS: Videofluoroscopic examination of the oral, pharyngeal and esophageal phases of swallowing showed that 94% of Parkinson's diseases patients present, structural causes, not related to Parkinson's diseases, able to produce or intensify the observed disphagia. The scintigraphic examination of Parkinson's diseases patients with sialorrhea showed that there is no increase of serous saliva production. Nevertheless, showed a significantly higher velocity of saliva excretion in the Parkinson's diseases patients. CONCLUSIONS: Dysphagia can be due to the muscular rigidity often present in the Parkinson's diseases patient, or more usually by non Parkinson's disease associated causes. In Parkinson's diseases patients, sialorrhea is produced by saliva retention. Nevertheless, sialorrhea can produce discomfort in swallowing, although without a formal complaint of dysphagia. In this case, subclinical dysphagia must be considered. Sialorrhea is indicative of dysphagia or at least of subclinical dysphagia. As final conclusion, Parkinson's diseases can be an isolated cause of dysphagia and/or sialorrhea, but frequently, a factor unrelated to Parkinson's diseases is the main cause of or at least aggravates the dysphagia.


Asunto(s)
Trastornos de Deglución/etiología , Enfermedad de Parkinson/complicaciones , Sialorrea/etiología , Adulto , Anciano , Anciano de 80 o más Años , Trastornos de Deglución/diagnóstico por imagen , Humanos , Persona de Mediana Edad , Radiografía , Cintigrafía , Sialorrea/diagnóstico por imagen
17.
Arq. gastroenterol ; 50(1): 42-49, Jan-Mar/2013. tab, graf
Artículo en Inglés | LILACS | ID: biblio-950498

RESUMEN

ContextDysphagia and sialorrhea in patients with Parkinson's disease are both automatically accepted as dependent on this neurological disease.ObjectiveThe aim were to establish if these two complaints are a consequence or associated manifestations of Parkinson's disease.MethodTwo Parkinson's diseases groups from the same outpatients' population were studied. Patients in the first group, with dysphagia, were studied by videofluoroscopy. The second, with sialorrhea, were studied by the scintigraphic method,ResultsVideofluoroscopic examination of the oral, pharyngeal and esophageal phases of swallowing showed that 94% of Parkinson's diseases patients present, structural causes, not related to Parkinson's diseases, able to produce or intensify the observed disphagia. The scintigraphic examination of Parkinson's diseases patients with sialorrhea showed that there is no increase of serous saliva production. Nevertheless, showed a significantly higher velocity of saliva excretion in the Parkinson's diseases patients.ConclusionsDysphagia can be due to the muscular rigidity often present in the Parkinson's diseases patient, or more usually by non Parkinson's disease associated causes. In Parkinson's diseases patients, sialorrhea is produced by saliva retention. Nevertheless, sialorrhea can produce discomfort in swallowing, although without a formal complaint of dysphagia. In this case, subclinical dysphagia must be considered. Sialorrhea is indicative of dysphagia or at least of subclinical dysphagia. As final conclusion, Parkinson's diseases can be an isolated cause of dysphagia and/or sialorrhea, but frequently, a factor unrelated to Parkinson's diseases is the main cause of or at least aggravates the dysphagia.


ContextoDisfagia e sialorreia em pacientes com doença de Parkinson são automaticamente entendidos como decorrentes do comprometimento neurológico produzido pela doença de Parkinson.ObjetivoEstabelecer se estas duas queixas são consequências ou manifestações associadas à doença de Parkinson.MétodoDois grupos de pacientes com doença de Parkinson provenientes da mesma população ambulatorial foram estudados. O primeiro grupo com queixa de disfagia foi estudado pelo método videofluoroscópico. Um segundo grupo com sialorreia foi estudado pelo método cintigráfico.ResultadosO exame videofluoroscópico das fases oral, faríngea e esofágica da deglutição mostrou que 94% das disfagias nos pacientes com doença de Parkinson eram devidas a causas estruturais não relacionadas com a doença de Parkinson e capazes de produzir ou intensificar a disfagia observada. Os exames cintigráficos dos pacientes com doença de Parkinson e sialorreia mostraram que não ocorre aumento da produção de saliva. No entanto mostrou significante aumento na velocidade de excreção da saliva nesses pacientes.ConclusõesA disfagia pode ser devido à rigidez muscular frequentemente presente nos pacientes com doença de Parkinson ou mais frequentemente por causas associadas que independem desta. Nos pacientes com doença de Parkinson a sialorreia é produzida pela retenção oral da saliva. Contudo é possível observar queixa de sialorreia sem formal queixa associada de disfagia. Nesses casos, disfagia sub-clínica deve ser considerada. Sialorreia é um indicativo de disfagia ou pelo menos de disfagia sub-clínica. Como conclusão final, a doença de Parkinson pode ser causa isolada de disfagia e ou sialorreia, mas frequentemente um fator não relacionado com a doença de Parkinson pode cursar como a principal causa ou pelo menos como causa agravante da disfagia.


Asunto(s)
Humanos , Adulto , Anciano , Anciano de 80 o más Años , Enfermedad de Parkinson/complicaciones , Sialorrea/etiología , Trastornos de Deglución/etiología , Sialorrea/diagnóstico por imagen , Radiografía , Trastornos de Deglución/diagnóstico por imagen , Cintigrafía , Persona de Mediana Edad
18.
Arq. gastroenterol ; 50(1): 42-49, Jan-Mar/2013. tab, graf
Artículo en Inglés | LILACS | ID: lil-671332

RESUMEN

Context Dysphagia and sialorrhea in patients with Parkinson's disease are both automatically accepted as dependent on this neurological disease. Objective The aim were to establish if these two complaints are a consequence or associated manifestations of Parkinson's disease. Method Two Parkinson's diseases groups from the same outpatients' population were studied. Patients in the first group, with dysphagia, were studied by videofluoroscopy. The second, with sialorrhea, were studied by the scintigraphic method, Results Videofluoroscopic examination of the oral, pharyngeal and esophageal phases of swallowing showed that 94% of Parkinson's diseases patients present, structural causes, not related to Parkinson's diseases, able to produce or intensify the observed disphagia. The scintigraphic examination of Parkinson's diseases patients with sialorrhea showed that there is no increase of serous saliva production. Nevertheless, showed a significantly higher velocity of saliva excretion in the Parkinson's diseases patients. Conclusions Dysphagia can be due to the muscular rigidity often present in the Parkinson's diseases patient, or more usually by non Parkinson's disease associated causes. In Parkinson's diseases patients, sialorrhea is produced by saliva retention. Nevertheless, sialorrhea can produce discomfort in swallowing, although without a formal complaint of dysphagia. In this case, subclinical dysphagia must be considered. Sialorrhea is indicative of dysphagia or at least of subclinical dysphagia. As final conclusion, Parkinson's diseases can be an isolated cause of dysphagia and/or sialorrhea, but frequently, a factor unrelated to Parkinson's diseases is the main cause of or at least aggravates the dysphagia. .


Contexto Disfagia e sialorreia em pacientes com doença de Parkinson são automaticamente entendidos como decorrentes do comprometimento neurológico produzido pela doença de Parkinson. Objetivo Estabelecer se estas duas queixas são consequências ou manifestações associadas à doença de Parkinson. Método Dois grupos de pacientes com doença de Parkinson provenientes da mesma população ambulatorial foram estudados. O primeiro grupo com queixa de disfagia foi estudado pelo método videofluoroscópico. Um segundo grupo com sialorreia foi estudado pelo método cintigráfico. Resultados O exame videofluoroscópico das fases oral, faríngea e esofágica da deglutição mostrou que 94% das disfagias nos pacientes com doença de Parkinson eram devidas a causas estruturais não relacionadas com a doença de Parkinson e capazes de produzir ou intensificar a disfagia observada. Os exames cintigráficos dos pacientes com doença de Parkinson e sialorreia mostraram que não ocorre aumento da produção de saliva. No entanto mostrou significante aumento na velocidade de excreção da saliva nesses pacientes. Conclusões A disfagia pode ser devido à rigidez muscular frequentemente presente nos pacientes com doença de Parkinson ou mais frequentemente por causas associadas que independem desta. Nos pacientes com doença de Parkinson a sialorreia é produzida pela retenção oral da saliva. Contudo é possível observar queixa de sialorreia sem formal queixa associada de disfagia. Nesses casos, disfagia sub-clínica deve ser considerada. Sialorreia é um indicativo de disfagia ou pelo menos de disfagia sub-clínica. Como conclusão final, a doença de Parkinson pode ser ...


Asunto(s)
Adulto , Anciano , Anciano de 80 o más Años , Humanos , Persona de Mediana Edad , Trastornos de Deglución/etiología , Enfermedad de Parkinson/complicaciones , Sialorrea/etiología , Trastornos de Deglución , Sialorrea
19.
Radiol. bras ; 45(6): 356-358, out.-dez. 2012. ilus
Artículo en Portugués | LILACS | ID: lil-660799

RESUMEN

A ultrassonografia transcraniana tem sido objeto de investigação como ferramenta diagnóstica em neurologia nos últimos anos. Ela permite boa visualização de estruturas cerebrais situadas na linha média, sítio frequente de anormalidades nas doenças do movimento. Relatamos os casos de pacientes com a doença de Parkinson e o tremor essencial em que a ultrassonografia transcraniana foi capaz de sugerir o diagnóstico.


Over the last years, transcranial sonography has been investigated as a diagnostic tool in neurology. It allows a good visualization of midline brain structures, a frequent site of involvement in movement disorders. The authors discuss cases of Parkinson's disease and essential tremor where transcranial sonography could suggest the diagnosis of the condition.


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Enfermedad de Parkinson/diagnóstico , Temblor Esencial , Hipocinesia , Rigidez Muscular/fisiopatología , Ultrasonografía Doppler Transcraneal
20.
Arq Neuropsiquiatr ; 70(8): 617-20, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22899034

RESUMEN

The prevalence of non-motor symptoms in Parkinson's disease (PD) is high. Depression varies from 20 to 50% of the PD patients, and is associated with increasing disability. The key characteristics of depression are anhedonia and low mood. The recommended scales for screening purposes are: HAM-D, BDI, HADS, MADRS and GDS. As for measurement of severity: HAM-D, MADRS, BDI and SDS. In cases with mild depression, non-pharmacological intervention is the treatment of choice. In moderate depression, antidepressants are required. The choice of an antidepressant should be based mainly on the comorbidities and unique features of the patient. Evidence for antidepressant effectiveness is seen mostly with amitriptyline and nortriptyline, but one should be cautious in elderly patients. Other antidepressants that can be prescribed are: citalopram, escitalopram, sertraline, bupropion, trazodone, venlafaxine, mirtazapine and duloxetin. The dopaminergic agonist pramipexole is a treatment option.


Asunto(s)
Depresión/diagnóstico , Enfermedad de Parkinson/psicología , Antidepresivos/uso terapéutico , Depresión/tratamiento farmacológico , Ejercicio Físico/psicología , Humanos , Escalas de Valoración Psiquiátrica , Calidad de Vida/psicología , Índice de Severidad de la Enfermedad , Evaluación de Síntomas/estadística & datos numéricos
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