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Previous observational studies suggested that sarcopenia is associated with Parkinson disease (PD), but it is unclear whether this association is causal. The objective of this study was to examine causal associations between sarcopenia-related traits and the risk or progression of PD using a Mendelian randomization (MR) approach. Two-sample bidirectional MR analyses were conducted to evaluate causal relationships. Genome-wide association study (GWAS) summary statistics for sarcopenia-related traits, including right handgrip strength (n = 461,089), left handgrip strength (n = 461,026), and appendicular lean mass (n = 450,243), were retrieved from the IEU OpenGWAS database. GWAS data for the risk of PD were derived from the FinnGen database (4235 cases; 373,042 controls). Summary-level data for progression of PD, including progression to Hoehn and Yahr stage 3, progression to dementia, and development of levodopa-induced dyskinesia, were obtained from a recent GWAS publication on progression of PD in 4093 patients from 12 longitudinal cohorts. Significant causal associations identified in MR analysis were verified through a polygenic score (PGS)-based approach and pathway enrichment analysis using genotype data from the Parkinson's Progression Markers Initiative. MR results supported a significant causal influence of right handgrip strength (odds ratio [OR] = 0.152, 95% confidence interval [CI] = 0.055-0.423, adjusted P = 0.0036) and appendicular lean mass (OR = 0.597, 95% CI = 0.440-0.810, adjusted P = 0.0111) on development of levodopa-induced dyskinesia. In Cox proportional hazard analysis, higher PGSs for right handgrip strength (hazard ratio [HR] = 0.225, 95% CI = 0.095-0.530, adjusted P = 0.0019) and left handgrip strength (HR = 0.303, 95% CI = 0.121-0.59, adjusted P = 0.0323) were significantly associated with a lower risk of developing levodopa-induced dyskinesia, after adjusting for covariates. Pathway enrichment analysis revealed that genome-wide significant single-nucleotide polymorphisms for right handgrip strength were substantially enriched in biological pathways involved in the control of synaptic plasticity. This study provides genetic evidence of the protective role of handgrip strength or appendicular lean mass on the development of levodopa-induced dyskinesia in PD. Sarcopenia-related traits can be promising prognostic markers for levodopa-induced dyskinesia and potential therapeutic targets for preventing levodopa-induced dyskinesia in patients with PD.
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Urban safety plays an essential role in the quality of citizens' lives and in the sustainable development of cities. In recent years, researchers have attempted to apply machine learning techniques to identify the role of location-specific attributes in the development of urban safety. However, existing studies have mainly relied on limited images (e.g., map images, single- or four-directional images) of areas based on a relatively large geographical unit and have narrowly focused on severe crime rates, which limits their predictive performance and implications for urban safety. In this work, we propose a novel method that predicts "deviance," which includes formal deviant crimes (e.g., murders) and informal deviant behaviors (e.g., loud parties at night). To do this, we first collect a large-scale geo-tagged dataset consisting of incident report data for seven metropolitan cities, along with corresponding sequential images around incident sites obtained from Google Street View. We then design a convolutional neural network that learns spatio-temporal visual attributes of deviant streets. Experimental results show that our framework is able to reliably recognize real-world deviance in various cities. Furthermore, we analyze which visual attribute is important for deviance identification and severity estimation with respect to social science as well as activated feature maps in the neural network. We have released our dataset and source codes on https://github.com/JinhwiPark/DevianceNet/.
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Glucosylceramidase beta 1 (GBA1) variants have attracted enormous attention as the most promising and important genetic candidates for precision medicine in Parkinson's disease (PD). A substantial correlation between GBA1 genotypes and PD phenotypes could inform the prediction of disease progression and promote the development of a preventive intervention for individuals at a higher risk of a worse disease prognosis. Moreover, the GBA1-regulated pathway provides new perspectives on the pathogenesis of PD, such as dysregulated sphingolipid metabolism, impaired protein quality control, and disrupted endoplasmic reticulum-Golgi trafficking. These perspectives have led to the development of novel disease-modifying therapies for PD targeting the GBA1-regulated pathway by repositioning treatment strategies for Gaucher's disease. This review summarizes the current hypotheses on a mechanistic link between GBA1 variants and PD and possible therapeutic options for modulating GBA1-regulated pathways in PD patients.
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OBJECTIVE: We identify individuals who set daily intake budgets and examine if an intervention making people estimate their calorie intake up to a certain point in the day helps those setting daily budgets to regulate their calorie intake for the remainder of the day, after high prior consumption. DESIGN: We conducted an online experiment in five countries: Australia, China, Germany, India, and the UK (n = 3,032) using a 2 (setting calorie budget: yes vs. no, measured) x 2 (intervention: intake reminder vs. control, manipulated) between-subjects design, with the amount of prior consumption measured. Participants were contacted in the afternoon. Those in the intervention condition were asked to estimate their prior calorie intake on that day. MAIN OUTCOME MEASURES: We measured the individual characteristics of those who set daily calorie budgets and the intended calorie intake for the remainder of the day. RESULTS: Among people who set daily calorie budgets, the intervention reduced intended calorie intake for the remainder of the day by 176 calories if they had already consumed a high amount of calories that day. CONCLUSION: A timely intervention to estimate one's calorie intake can lower additional intended calorie intake among those who set daily calorie budget.
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Ingestão de Energia , Humanos , Ingestão de Energia/fisiologia , Austrália , China , Alemanha , ÍndiaRESUMO
Trehalose has been recently revealed as an attractive candidate to prevent and modify Parkinson's disease (PD) progression by regulating autophagy; however, studies have only focused on the reduction of motor symptoms rather than the modulation of disease course from prodromal stage. This study aimed to evaluate whether trehalose has a disease-modifying effect at the prodromal stage before the onset of a motor deficit in 8-week-old male C57BL/6 mice exposed to rotenone. We found significant decrease in tyrosine hydroxylase immunoreactivity in the substantia nigra and motor dysfunction after 2 weeks rotenone treatment. Mice exposed to rotenone for a week showed an accumulation of protein aggregates in the brain and prodromal non-motor deficits, such as depression and olfactory dysfunction, prior to motor deficits. Trehalose significantly improved olfactory dysfunction and depressive-like behaviors and markedly reduced α-synuclein and p62 deposition in the brain. Trehalose further ameliorated motor impairment and loss of nigral tyrosine hydroxylase-positive cells in rotenone-treated mice. We demonstrated that prodromal non-motor signs in a rotenone-induced PD mouse model are associated with protein aggregate accumulation in the brain and that an autophagy inducer could be valuable to prevent PD progression from prodromal stage by regulating abnormal protein accumulation.
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Transtornos do Olfato , Doença de Parkinson , Trealose , Animais , Modelos Animais de Doenças , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Doença de Parkinson/tratamento farmacológico , Sintomas Prodrômicos , Rotenona/toxicidade , Trealose/farmacologia , Trealose/uso terapêutico , Tirosina 3-Mono-Oxigenase/metabolismoRESUMO
Background: Exercise is an important treatment for Parkinson's disease (PD). Therefore, recognizing determinants of exercise behavior for PD based on disease stage is essential. We sought to find whether the determinants differ based on presence of postural instability (PI), which is indicative of disease stage in PD. Methods: We enrolled patients at Samsung Medical Center from September 2019 to November 2020, who had the ability to perform exercise [modified Hoehn and Yahr (HY) stage ≤ 3]. All the motor and non-motor symptoms were investigated. The exercise of the PD patients was evaluated using the Physical Activity Scale of the Elderly (PASE)-leisure score. We classified patients into PD without PI (HY stage 1 - 2) and PD with PI (HY stage 2.5 - 3) groups. Multivariate linear regression was performed using backward elimination in each group to determine factors associated with PASE-leisure score. Results: A total of 233 patients were enrolled. In the PD without PI group (n = 177), the positive determinant of exercise was Activities-Specific Balance Confidence (ABC) score (ß = 0.142, p = 0.032), and the negative determinants were fatigue score (ß = -0.228, p = 0.018), female (ß = -6.900, p = 0.016) and currently employed status (ß = -6.072, p = 0.046). In the PD with PI group (n = 56), the positive determinant was non-motor symptom scale (NMSS) score (ß = 0.221, p = 0.017) and disease duration (ß = 1.001, p = 0.036), while the negative determinants were UPDRS part 3 score (ß = -0.974, p < 0.001), UPDRS part 4 score (ß = -2.192, p = 0.002), and age (ß = -1.052, p < 0.001). Conclusion: Different motor and non-motor symptoms were associated with the exercise in PD patients with and without PI. When encouraging PD patients to exercise, personalized and different strategies should be applied based on the presence of PI.
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Protein-coding variants in the GBA gene modulate susceptibility and progression in ~10% of patients with Parkinson's disease (PD). GBA encodes the ß-glucocerebrosidase enzyme that hydrolyzes glucosylceramide. We hypothesized that GBA mutations will lead to glucosylceramide accumulation in cerebrospinal fluid (CSF). Glucosylceramide, ceramide, sphingomyelin, and lactosylceramide levels were measured by liquid chromatography-tandem mass spectrometry in CSF of 411 participants from the Parkinson's Progression Markers Initiative (PPMI) cohort, including early stage, de novo PD patients with abnormal dopamine transporter neuroimaging and healthy controls. Forty-four PD patients carried protein-coding GBA variants (GBA-PD) and 227 carried wild-type alleles (idiopathic PD). The glucosylceramide fraction was increased (P = 0.0001), and the sphingomyelin fraction (a downstream metabolite) was reduced (P = 0.0001) in CSF of GBA-PD patients compared to healthy controls. The ceramide fraction was unchanged, and lactosylceramide was below detection limits. We then used the ratio of glucosylceramide to sphingomyelin (the GlcCer/SM ratio) to explore whether these two sphingolipid fractions altered in GBA-PD were useful for stratifying idiopathic PD patients. Idiopathic PD patients in the top quartile of GlcCer/SM ratios at baseline showed a more rapid decline in Montreal Cognitive Assessment scores during longitudinal follow-up compared to those in the lowest quartile with a P-value of 0.036. The GlcCer/SM ratio was negatively associated with α-synuclein levels in CSF of PD patients. This study highlights glucosylceramide as a pathway biomarker for GBA-PD patients and the GlcCer/SM ratio as a potential stratification tool for clinical trials of idiopathic PD patients. Our sphingolipids data together with the clinical, imaging, omics, and genetic characterization of PPMI will contribute a useful resource for multi-modal biomarkers development.
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This corrects the article on p. 633 in vol. 16, PMID: 33029970.
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Objective: Pisa syndrome (PS) is a disabling postural deformity in Parkinson's disease (PD). We aimed to elucidate clinical factors determining the severity and laterality of PS in PD. Methods: In 54 PD patients with PS, we measured the clinical factors that are previously known to contribute to the occurrence of PS as follows: asymmetry of motor symptoms for the evaluation of asymmetric basal ganglia dysfunction, the degree and direction of subjective visual vertical (SVV) tilt for the misperception of body verticality, the canal paresis for unilateral peripheral vestibulopathy, and the tonic electromyographic (EMG) hyperactivity of paraspinal muscles for dystonia. Multivariable linear and logistic regression analyses were conducted to identify the clinical factors associated with the degree of truncal tilt, for the quantification of the severity of PS, and PS tilting to the less affected side, respectively. Results: The multivariable linear regression analyses revealed that the larger degree of SVV tilt (ß = 0.29, SE = 0.10, p = 0.005), right-sided SVV tilt (ß = 2.32, SE = 0.82, p = 0.007), and higher Hoehn and Yahr (HY) stage (ß = 4.01, SE = 1.29, p = 0.003) significantly increased the severity of PS. In the multivariable logistic regression analyses, greater asymmetry of motor symptoms [odds ratio (OR) = 2.01, 95% CI = 1.34-3.49] was significantly associated with PS tilting to the less affected side, while right-sided SVV tilt (OR = 0.02, 95% CI = 0.001-0.21), unilateral canal paresis (OR = 0.06, 95% CI = 0.003-0.79), and higher HY stage (OR = 0.04, 95% CI = 0.002-0.46) were associated with PS tilting to the more affected side. Conclusion: Misperception of verticality, asymmetric basal ganglia dysfunction, unilateral peripheral vestibulopathy, and motor disability are the clinical factors associated with the severity and laterality of PS in patients with PD.
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OBJECTIVE: Nutrition and menu labelling have been increasingly implemented worldwide. This research examines the effect of nutrition information provision on the immediate and subsequent consumption decisions of restrained and unrestrained eaters. DESIGN: We conducted three scenario-based experiments. In Study 1 (N = 478) and Study 2 (N = 199), we manipulated the availability of nutrition information and measured dietary restraint. Study 3 (N = 275) extended Study 2 by adding a condition where we provided reference information about recommended daily calories. MAIN OUTCOME MEASURES: We measured choices between relatively low-calorie and high-calorie alternatives (Studies 1-3) and measured a subsequent decision to consume indulgent food (Studies 2 and 3). RESULTS: Nutrition information did not generally affect choices between low-calorie and high-calorie options, irrespective of dietary restraint. However, restrained eaters who chose a high-calorie option in the presence of nutrition information indicated they would reduce subsequent intake. CONCLUSION: Nutrition information does not necessarily reduce the choice of relatively high-calorie food, but it can help restrained eaters reduce subsequent intake after a high-calorie choice. These results suggest that despite not having an immediate effect on choices, nutrition and menu labelling may benefit restrained eaters at a later time.
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Dieta , Preferências Alimentares , Ingestão de Energia , Alimentos , Rotulagem de Alimentos/métodos , HumanosRESUMO
BACKGROUND AND PURPOSE: The Movement Disorder Society-Sponsored Revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) is widely used for estimating the symptoms of Parkinson's disease. Translation and validation of the MDS-UPDRS is necessary for non-English speaking countries and regions. The aim of this study was to validate the Korean version of the MDS-UPDRS. METHODS: Altogether, 362 patients in 19 centers were recruited for this study. We translated the MDS-UPDRS to Korean using the translation-back translation method and cognitive pretesting. We performed both confirmatory and exploratory factor analyses to validate the scale. We calculated the comparative fit index (CFI) for confirmatory factor analysis, and used unweighted least squares for exploratory factor analysis. RESULTS: The CFI was higher than 0.90 for all parts of the scale. Exploratory factor analysis also showed that the Korean MDS-UPDRS has the same number of factors in each part as the English version. CONCLUSIONS: The Korean MDS-UPDRS has the same overall structure as the English MDS-UPDRS. Our translated scale can be designated as the official Korean MDS-UPDRS.
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OBJECTIVE: To test the relationship between clinically relevant types of GBA mutations (none, risk variants, mild mutations, severe mutations) and ß-glucocerebrosidase activity in patients with Parkinson disease (PD) in cross-sectional and longitudinal case-control studies. METHODS: A total of 481 participants from the Harvard Biomarkers Study (HBS) and the NIH Parkinson's Disease Biomarkers Program (PDBP) were analyzed, including 47 patients with PD carrying GBA variants (GBA-PD), 247 without a GBA variant (idiopathic PD), and 187 healthy controls. Longitudinal analysis comprised 195 participants with 548 longitudinal measurements over a median follow-up period of 2.0 years (interquartile range, 1-2 years). RESULTS: ß-Glucocerebrosidase activity was low in blood of patients with GBA-PD compared to healthy controls and patients with idiopathic PD, respectively, in HBS (p < 0.001) and PDBP (p < 0.05) in multivariate analyses adjusting for age, sex, blood storage time, and batch. Enzyme activity in patients with idiopathic PD was unchanged. Innovative enzymatic quantitative trait locus (xQTL) analysis revealed a negative linear association between residual ß-glucocerebrosidase activity and mutation type with p < 0.0001. For each increment in the severity of mutation type, a reduction of mean ß-glucocerebrosidase activity by 0.85 µmol/L/h (95% confidence interval, -1.17, -0.54) was predicted. In a first longitudinal analysis, increasing mutation severity types were prospectively associated with steeper declines in ß-glucocerebrosidase activity during a median 2 years of follow-up (p = 0.02). CONCLUSIONS: Residual activity of the ß-glucocerebrosidase enzyme measured in blood inversely correlates with clinical severity types of GBA mutations in PD. ß-Glucocerebrosidase activity is a quantitative endophenotype that can be monitored noninvasively and targeted therapeutically.
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Glucosilceramidase/genética , Mutação , Doença de Parkinson/genética , Idoso , Idoso de 80 Anos ou mais , Transtornos Cognitivos/etiologia , Estudos Transversais , Feminino , Seguimentos , Estudos de Associação Genética , Glucosilceramidase/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Doença de Parkinson/enzimologia , Doença de Parkinson/fisiopatologia , Doença de Parkinson/psicologia , Locos de Características Quantitativas , Índice de Gravidade de DoençaRESUMO
Obesity is one of the greatest public health challenges of modern times and its prevalence is increasing worldwide. With food so abundant in developed countries, many people face a conflict between desires for short-term taste and the goal of long-term health, multiple times a day. Recent research suggests that consumers often resolve these conflicts based on their lay beliefs about the healthiness and tastiness of food. Consequently, such lay beliefs can play critical roles not just in food choice but also weight gain. In this research, we show, across six countries and through mediation analysis, that adults who believe that tasty food is unhealthy (the Unhealthy = Tasty Intuition, or "UTI"; Raghunathan, Naylor, & Hoyer 2006) are less likely to consume healthy food, and thereby have a higher body mass index (BMI). In Study 1, we conducted a cross-sectional survey in five countries (Australia, Germany, Hong Kong, India, and the UK), and found that greater strength of belief in UTI was associated with higher BMI, and this relationship was mediated by lower consumption of fruits and vegetables. The observed patterns largely converged across the sampled Western and Asian-Pacific countries. In Study 2, we teased apart the mediating role of vegetable versus fruit consumption and also addressed the issue of reversed causality by predicting BMI with a measure of UTI belief taken 30 months previously. We found that vegetable consumption, but not fruit consumption, mediated the association between UTI belief and BMI. Our findings contribute to the literature by showing how lay beliefs about food can have pervasive and long-lasting effects on dietary practices and health worldwide. Implications for public policy and health practitioners are discussed.
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Índice de Massa Corporal , Dieta Saudável/psicologia , Ingestão de Alimentos/psicologia , Preferências Alimentares/psicologia , Paladar , Adulto , Austrália , Comparação Transcultural , Estudos Transversais , Cultura , Dieta Saudável/métodos , Feminino , Frutas , Alemanha , Hong Kong , Humanos , Índia , Masculino , Análise de Mediação , Pessoa de Meia-Idade , Obesidade/etiologia , Obesidade/psicologia , Inquéritos e Questionários , Reino Unido , VerdurasRESUMO
We elucidated whether verticality misperception is associated with the generation of Pisa syndrome (PS) in patients with Parkinson's disease (PD). To examine the heterogenous influence of verticality perception, we also identified the characteristics distinguishing between PD patients with PS who tilted toward the deviation of perceived verticality and those who did not. Subjective visual vertical (SVV) testing was performed in 54 PD patients with PS and 36 without PS to measure verticality perception. Other potential risk factors for PS were evaluated by assessing the asymmetry of motor symptoms, EMG activities of paraspinal muscles, bithermal caloric tests, back pain history, and Berg Balance Scale. Abnormal SVV (odds ratio (OR) 18.40, p = 0.006), postural imbalance (OR 0.71, p = 0.046), and unilateral EMG hyperactivity of paraspinal muscles (OR 39.62, p = 0.027) were independent contributors to PS. In subgroup analysis, EMG hyperactivity of paraspinal muscles contralateral to the leaning side and postural imbalance were associated with PD patients with PS who tilted toward the SVV deviation, whereas back pain was more frequent in those who did not. Verticality misperception is a potent risk factor for PS in PD and contributes differentially to PS depending on the congruence between its direction and PS direction, indicating distinct pathogenic roles.
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Doença de Parkinson/complicações , Doença de Parkinson/patologia , Equilíbrio Postural/fisiologia , Postura/fisiologia , Transtornos de Sensação/etiologia , Transtornos de Sensação/patologia , Idoso , Eletromiografia/métodos , Feminino , Humanos , Masculino , Músculos/fisiologia , Percepção Espacial/fisiologia , Síndrome , Percepção Visual/fisiologiaRESUMO
AIMS: To elucidate different patterns of progression of midbrain atrophy in patients with Richardson's syndrome (RS), progressive supranuclear palsy-parkinsonism (PSP-P), and Parkinson's disease (PD) using magnetic resonance imaging (MRI)-based visual rating indexes. METHODS: We recruited 12 patients with PSP-RS, 12 with PSP-P, and 23 with PD for whom MRIs had been followed up for at least 2 years (mean ± SD, 4.9 ± 1.6 years) after the initial MRI. MRI-based visual rating indexes were used to estimate midbrain atrophy, including the ratio of the pontine to midbrain tegmental areas (P/M ratio) on a midsagittal image, the length between the interpeduncular fossa and the center of the cerebral aqueduct at the midmammillary-body level (MTEGM) on axial images, and the morning glory sign. RESULTS: Initially, there were no differences in MRI-based visual rating indexes between PSP-P and PD, while PSP-RS showed a higher P/M ratio and lower MTEGM compared with PSP-P and PD. In PD, the P/M ratio and MTEGM remained stable with disease progression. However, the extent of changes between initial and follow-up indexes was similarly greater for both PSP-RS and PSP-P than for PD. Finally, PSP-P showed a higher P/M ratio and lower MTEGM compared with PD in the follow-up, while PSP-RS still exhibited the most profound changes. CONCLUSIONS: Midbrain atrophy progresses differentially in patients with PSP-RS, PSP-P, and PD. Longitudinal measurements of midbrain atrophy using MRI-based visual rating indexes can help distinguish patients with PSP-P from those with PSP-RS and PD.
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Mesencéfalo/diagnóstico por imagem , Transtornos Parkinsonianos/diagnóstico por imagem , Paralisia Supranuclear Progressiva/diagnóstico por imagem , Idoso , Atrofia , Diagnóstico Diferencial , Progressão da Doença , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Índice de Gravidade de DoençaRESUMO
When people cannot get what they want, they often satisfy their desire by consuming a substitute. Substitutes can originate from within the taxonomic category of the desired stimulus (i.e., within-category substitutes) or from a different taxonomic category that serves the same basic goal (i.e., cross-category substitutes). Both a store-brand chocolate (within-category substitute) and a granola bar (cross-category substitute), for example, can serve as substitutes for gourmet chocolate. Here, we found that people believe that within-category substitutes, which are more similar to desired stimuli, will more effectively satisfy their cravings than will cross-category substitutes (Experiments 1, 2a, and 2b). However, because within-category substitutes are more similar than cross-category substitutes to desired stimuli, they are more likely to evoke an unanticipated negative contrast effect. As a result, unless substitutes are equivalent in quality to the desired stimulus, cross-category substitutes more effectively satisfy cravings for the desired stimulus (Experiments 3 and 4).
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Comportamento de Escolha/fisiologia , Preferências Alimentares , Adulto , Feminino , Humanos , MasculinoRESUMO
INTRODUCTION: To elucidate the unique patterns of postural sensory deficits contributing to freezing of gait (FOG) in patients with Parkinson's disease (PD) and to identify postural sensory modalities that correlate with FOG severity. METHODS: Twenty-five PD patients with FOG, 22 PD patients without FOG, and 26 age-matched controls were evaluated using a sensory organization test and clinical measures including the Unified Parkinson's Disease Rating Scale motor score, Montreal Cognitive Assessment, Frontal Assessment Battery, Activities-specific Balance Confidence, Beck Anxiety Inventory, Beck Depression Inventory, and Berg Balance Scale. Multivariable logistic regression analysis was performed for posturographic parameters and possible confounders to determine postural sensory contributors to FOG. We also correlated FOG severity, measured using a New Freezing of Gait Questionnaire, with posturographic parameters. RESULTS: PD patients with FOG showed worse postural sensory processing compared with those without FOG. In particular, the inability to use the vestibular information (odds ratio [OR] 1.447; 95% confidential interval [CI]: 1.120, 1.869) and poor control over the perturbed somatosensory inputs (OR 2.904; 95% CI: 1.028, 8.202) significantly contributed to FOG. Among PD patients with FOG, FOG severity was correlated with higher reliance on visual information (ρ = -0.432, p = 0.039). CONCLUSIONS: Postural sensory deficits involving specific sensory modalities are strongly associated with FOG. Quantitative measurement of postural sensory deficits in PD patients with FOG may provide a better understanding of pathomechanisms of FOG and increase the efficacy of sensory cueing strategies for alleviating FOG, by more accurately identifying suitable patients for rehabilitative therapies.
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Transtornos Neurológicos da Marcha/etiologia , Transtornos Neurológicos da Marcha/fisiopatologia , Doença de Parkinson/complicações , Doença de Parkinson/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico/métodos , Equilíbrio Postural/fisiologia , Propriocepção/fisiologiaRESUMO
Postmortem studies of essential tremor (ET) have demonstrated the presence of degenerative changes in the cerebellum, and imaging studies have examined related structural changes in the brain. However, their results have not been completely consistent and the number of imaging studies has been limited. We aimed to study cerebellar involvement in ET using MRI segmental volumetric analysis. In addition, a unique feature of this study was that we stratified ET patients into subtypes based on the clinical presence of cerebellar signs and compared their MRI findings. Thirty-nine ET patients and 36 normal healthy controls, matched for age and sex, were enrolled. Cerebellar signs in ET patients were assessed using the clinical tremor rating scale and International Cooperative Ataxia Rating Scale. ET patients were divided into two groups: patients with cerebellar signs (cerebellar-ET) and those without (classic-ET). MRI volumetry was performed using CIVET pipeline software. Data on whole and segmented cerebellar volumes were analyzed using SPSS. While there was a trend for whole cerebellar volume to decrease from controls to classic-ET to cerebellar-ET, this trend was not significant. The volume of several contiguous segments of the cerebellar vermis was reduced in ET patients versus controls. Furthermore, these vermis volumes were reduced in the cerebellar-ET group versus the classic-ET group. The volume of several adjacent segments of the cerebellar vermis was reduced in ET. This effect was more evident in ET patients with clinical signs of cerebellar dysfunction. The presence of tissue atrophy suggests that ET might be a neurodegenerative disease.
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Vermis Cerebelar/fisiopatologia , Tremor Essencial/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Atrofia/metabolismo , Ataxia Cerebelar/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-IdadeRESUMO
In Parkinson variant of multiple system atrophy (MSA-P), patterns of early speech impairment and their distinguishing features from Parkinson's disease (PD) require further exploration. Here, we compared speech data among patients with early-stage MSA-P, PD, and healthy subjects using quantitative acoustic and perceptual analyses. Variables were analyzed for men and women in view of gender-specific features of speech. Acoustic analysis revealed that male patients with MSA-P exhibited more profound speech abnormalities than those with PD, regarding increased voice pitch, prolonged pause time, and reduced speech rate. This might be due to widespread pathology of MSA-P in nigrostriatal or extra-striatal structures related to speech production. Although several perceptual measures were mildly impaired in MSA-P and PD patients, none of these parameters showed a significant difference between patient groups. Detailed speech analysis using acoustic measures may help distinguish between MSA-P and PD early in the disease process.