Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease.

Parkinson's disease (PD) is the second most prevalent neurodegenerative disease globally, with a fast-growing prevalence. The etiology of PD exhibits a multifactorial complex nature and remains challenging. Herein, we described clinical, molecular, and integrative bioinformatics findings from a Brazilian female affected by Early-Onset PD (EOPD) harboring a recurrent homozygous pathogenic deletion in the parkin RBR E3 ubiquitin protein ligase gene (PRKN; NM_004562.3:c.155delA; p.Asn52Metfs*29; rs754809877), along with a novel heterozygous variant in the synaptojanin 1 gene (SYNJ1; NM_003895.3:c.62G > T; p.Cys21Phe; rs1486511197) found by Whole Exome Sequencing. Uncommon or unreported PRKN-related clinical features in the patient include cognitive decline, auditory and visual hallucinations, REM sleep disorder, and depression, previously observed in SYNJ1-related conditions. Moreover, PRKN interacts with endophilin A1, which is a major binding partner of SYNJ1. This protein plays a pivotal role in regulating the dynamics of synaptic vesicles, particularly in the context of endocytosis and recycling processes. Altogether, our comprehensive analyses underscore a potential synergistic effect between the PRKN and SYNJ1 variants over the pathogenesis of EOPD.

Oscillometry of the respiratory system in Parkinson's disease: physiological changes and diagnostic use.

BACKGROUND: Lung function analysis in Parkinson's disease (PD) is often difficult due to the demand for adequate forced expiratory maneuvers. Respiratory oscillometry exams require onlyquiet tidal breathing and provide a detailed analysis of respiratory mechanics. We hypothesized that oscillometry would simplify the diagnosis of respiratory abnormalitiesin PD and improve our knowledge about the pathophysiological changes in these patients. MATERIALS AND METHODS: This observational study includes 20 controls and 47 individuals with PD divided into three groups (Hoehn and Yahr Scale 1-1.5; H&Y scale 2-3 and PD smokers).The diagnostic accuracy was evaluated by investigating the area under the receiver operating characteristic curve (AUC). RESULTS: Initial stages are related to increased peripheral resistance (Rp; p = 0.001). In more advanced stages, a restrictive pattern is added, reflected by reductions in dynamic compliance (p < 0.05) and increase in resonance frequency (Fr; p < 0.001). Smoking PD patients presented increased Rp (p < 0.001) and Fr (p < 0.01). PD does not introduce changes in the central airways. Oscillometric changes were correlated with respiratory muscle weakness (R = 0.37, p = 0.02). Rp showed adequate accuracy in the detection of early respiratory abnormalities (AUC = 0.858), while in more advanced stages, Fr showed high diagnostic accuracy (AUC = 0.948). The best parameter to identify changes in smoking patients was Rp (AUC = 0.896). CONCLUSION: The initial stages of PD are related to a reduction in ventilation homogeneity associated with changes in peripheral airways. More advanced stages also include a restrictive ventilatory pattern. These changes were correlated with respiratory muscle weakness and were observed in mild and moderate stages of PD in smokers and non-smokers. Oscillometry may adequately identify respiratory changes in the early stages of PD and obtain high diagnostic accuracy in more advanced stages of the disease.

Laryngopharyngeal motor dysfunction and obstructive sleep apnea in Parkinson's disease.

PURPOSE: Obstructive sleep apnea (OSA) is a common sleep disorder in Parkinson's disease (PD), but the relationship between these two conditions remains uncertain. Upper airway (UA) dysfunction in PD is well documented in some patients and is believed to be a reflex of the motor involvement of laryngopharyngeal muscles. The aim of this study is to determine whether UA dysfunction and laryngopharyngeal motor dysfunction (LMD) are involved in the obstructive phenomenon of OSA in PD. METHODS: Forty-eight PD patients underwent polysomnography for OSA diagnosis, functional evaluation of the UA by spirometry and a clinical protocol for analysis of laryngopharyngeal muscles and physical examination. RESULTS: Thirty-one participants (64.6%) fulfilled the criteria for OSA according to the International Classification of Sleep Disorders- third edition (at least respiratory disturbance index of five or higher per hour of sleep plus specific symptoms). UA obstruction was observed in 25% of participants and LMD in 60.4%. Among the clinical indicators of LMD, hypophonia was the most common (58.3%). Participants with LMD had a threefold greater chance of presenting with OSA than those without LMD did (OR = 3.49; 95% CI, 1.01-12.1; p = 0.044). Individuals with LMD had more UA dysfunction (37.9 vs 10.5%, p = 0.037), higher scores on UPDRS III (20 vs 15, p = 0.0005) and the Hoehn-Yahr scale (2.5 vs 2.0, p = 0.008), and higher frequencies of postural changes (51.7 vs 21.1%, p = 0.033) and motor phenomena (65.5 vs 31.6%, p = 0.021). Obesity, snoring, neck circumference, and the Mallampati score did not correlate with OSA in PD. CONCLUSION: LMD should be considered a factor that is involved in the obstructive phenomenon of UA in patients with OSA and PD.

Electrostimulation of the posterior tibial nerve in individuals with overactive bladder: a literature review.

[Purpose] This study aims to gather scientific evidence to identify whether clinical trials on Electrostimulation of the Posterior Tibial Nerve (ESPTN) in individuals with overactive bladder present an adequate methodological standard according to the PEDro (Physiotherapy Evidence Database) criteria. [Methods] Integral literature review, including randomized controlled clinical trials found in PEDro. [Results] We found 16 articles, of which only one did not meet the inclusion criteria. This article has shown that ESPTN is a conservative tool of physiotherapy that is less invasive than other therapies, is well tolerated by patients and has been shown to be effective in the treatment of overactive bladder. However, few standardized clinical studies have been conducted, and only 26.6% of the articles included in this review obtained a score of more than five items on the PEDro scale. [Conclusion] This article has shown that ESPTN is a conservative tool of physiotherapy that is less invasive than other therapies, is well tolerated by patients and has been shown to be effective in the treatment of overactive bladder. Thus, there is a need for more clinical articles that follow the quality criteria for randomized clinical trials, allowing more reliable scientific results.

Fatigue in Brazilian patients with Parkinson's disease.

Fatigue is a non-motor symptom of high prevalence in Parkinson's disease (PD); however, it is still unknown and neglected by health professionals. Objective: This study aimed to demonstrate the prevalence of fatigue in patients with PD after excluding confounding factors, as well as its correlation with clinical and demographic data, and to find its negative impact on the quality of life of these patients. Methods: A cross-sectional study was carried out with 237 randomly selected patients. According to inclusion and exclusion criteria, we selected 53 patients, who were then submitted to the Fatigue Severity Scale. Clinical and demographic data were also analyzed, comparing them between patients with and without fatigue. Results: We identified fatigue in 21 (39.62%) patients. Patients with and without fatigue had similar mean scores on the UPDRS-III (p=0.36), equivalent daily dose of levodopa (p=0.94), mean disease duration (p=0.43), and mean age (p<0.99). Fatigued patients had worse quality of life scores (PDQ-39) (p=0.00). We did not observe a correlation between fatigue, duration of illness (r=0.11; p=0.43), age (r=0.00; p=0.99), and UPDRS-III (r=0.20; p=0.16). Conclusions: Fatigue is a highly prevalent and independent symptom of PD. There is no correlation between age, mean duration of disease, motor impairment, and its presence. It has a negative impact on quality of life.

A fadiga é um sintoma não motor de elevada prevalência na doença de Parkinson, no entanto ela ainda é desconhecida e negligenciada por profissionais de saúde. Objetivo: Demonstrar a prevalência de fadiga em pacientes com doença de Parkinson após a exclusão de fatores de confusão, bem como sua correlação com dados clínicos e demográficos, comprovando seu impacto negativo na qualidade de vida desses pacientes. Métodos: Foi realizado um estudo transversal com 237 pacientes selecionados aleatoriamente. De acordo com critérios de inclusão e exclusão, escolhemos 53 pacientes, que foram então submetidos à Escala de Gravidade de Fadiga. Analisaram-se também dados clínicos e demográficos, comparando-os entre os pacientes com e sem fadiga. Resultados: Identificamos fadiga em 21 pacientes (39,62%). Pacientes com e sem fadiga apresentaram pontuação média semelhante na Escala Unificada de Avaliação para Doença de Parkinson (UPDRS-III) (p=0,36), dose diária equivalente de levodopa (p=0,94), tempo médio de duração da doença (p=0,43) e idade média (p<0,99). Pacientes fatigados apresentaram piores índices de qualidade de vida (Parkinson's Disease Questionnaire - PDQ-39) (p=0,00). Não observamos correlação entre fadiga, tempo de doença (r=0,11; p=0,43), idade (r=0,00; p=0,99) e UPDRS-III (r=0,20; p=0,16). Conclusões: A fadiga é um sintoma de alta prevalência e independente na doença de Parkinson. Não há correlação entre idade, tempo médio de duração da doença, comprometimento motor e sua presença. Possui impacto negativo na qualidade de vida.

Common environmental factors explain both ectomycorrhizal species diversity and pine regeneration variability in a post-fire Mediterranean forest.

Natural seedling regeneration and establishment after stand replacing wildfires is influenced by a series of environmental and biological constraints. In this study, we characterized the diversity and structure of the ectomycorrhizal (ECM) fungal community associated with post-fire naturally regenerated maritime pine saplings, and individuate the environmental factors responsible for fungal species distribution. We also identify the main environmental factors responsible for maritime pine regeneration variability and assessed the relation between saplings performance and ECM fungal diversity indices. Fungal species were identified by direct sequencing of internal transcribed spacer regions. Five years after the disturbance event, a total of 30 taxa colonized the pine saplings. The ECM fungal community was dominated by ruderal species of the genus Rhizopogon (present in almost half of the samples). Almost one third of the identified ECM fungal species belonged to the family Thelephoraceae. Typical k-selected species like Amanita pantherina, Boletus aestivalis, Lactarius chrysorrheus, and Russula densifolia were found on pine saplings collected in proximity of unburnt pine trees, in correspondence with low erosion extents. Pine regeneration varied throughout the study areas and was enhanced at higher elevations, in correspondence with moderate slopes, shallower soils, and a reduced cover of ericaceous shrubs and bare ground. These conditions were found in close proximity to patches of pine trees that survived the disturbance event and were previously characterized by a higher pre-fire pine biomass. Even though no correlations were found between saplings performance and ECM fungal diversity indices, common environmental factors (i.e., ericaceous shrub cover, extent of erosion, slope, and soil depth) were responsible for shaping the ECM fungal distribution and for describing most of the explained regeneration variability.

A study of LRRK2 mutations and Parkinson's disease in Brazil.

Mutations in the Leucine-rich repeat kinase 2 (LRRK2) gene are known as a common cause of Parkinson's disease (PD) among patients from different geographic origins. In this study, we evaluated the prevalence of LRRK2 mutations in exons 31 and 41 in a cohort of 154 consecutive, unrelated Brazilian patients with familial or sporadic PD, including early and late onset patients. The LRRK2 p.G2019S mutation was present in heterozygous state in three index cases (approximately 2%), and in three additional relatives. No carriers of this mutation were found among 250 control chromosomes. Clinically, all mutation-positive patients presented a typical PD phenotype and a good response to levodopa. Mutation segregation analysis in a large sibling showed incomplete penetrance of the p.G2019S. Our findings suggest that the LRRK2 p.G2019S mutation has a substantial contribution to PD susceptibility among Brazilian population and add new clues to current research of this disease.

Variations in growth, survival and carbon isotope composition (delta(13)C) among Pinus pinaster populations of different geographic origins.

To evaluate differences in growth and adaptability of maritime pine (Pinus pinaster Ait.), we studied growth, polycyclism, needle tissue carbon isotope composition (delta(13)C) as an estimate of water-use efficiency (WUE) and survival of seven populations at 10 years of age growing in a performance trial at a provenance test site in Escaroupim, Portugal. Six populations were from relatively high rainfall sites in Portugal and southwestern France (Atlantic group), and one population was from a more arid Mediterranean site in Spain. There were significant differences between some populations in total height, diameter at breast height, delta(13)C of bulk needle tissue, polycyclism and survival. A population from central Portugal (Leiria, on the Atlantic coast) was the tallest and had the lowest delta(13)C. Overall, the variation in delta(13)C was better explained by the mean minimum temperatures of the coldest month than by annual precipitation at the place of origin. Analyses of the relationships between delta(13)C and growth or survival revealed a distinct pattern for the Mediterranean population, with low delta(13)C (and WUE) associated with the lowest growth potential and reduced survival. There were significant negative correlations between delta(13)C and height or survival in the Atlantic group. Variation in polycyclism was correlated with annual precipitation at the place of origin. Some Atlantic populations maintained a high growth potential while experiencing moderate water stress. A detailed knowledge of the relationships between growth, survival and delta(13)C in contrasting environments will enhance our ability to select populations for forestry or conservation.

Volumetric brain analysis as a predictor of a worse cognitive outcome in Parkinson's disease.

Cognitive impairment in Parkinson's disease (PD) results in significant morbidity and mortality being early diagnosis essential. Identification of patients who are at higher risk of developing cognitive impairment based only on clinical data is not sufficient. To this end, magnetic resonance imaging (MRI) with automatic segmentation, such as FreeSurfer, could be a useful tool with high accuracy because it has histological validation. OBJECTIVES: The objective of this study was to evaluate clinical, neuropsychological and FreeSurfer variables that may be related to worse cognitive outcomes over 18 months in PD patients compared with controls. METHODS: PD patients were recruited according to established inclusion and exclusion criteria as well individuals without any neurological or psychiatric diagnosis and were submitted to the same protocol: neurological, neuropsychological and neuroimaging evaluations. After 18 months, the study subjects were reassessed by neurological and neuropsychological evaluations. RESULTS: Of 171 individuals selected for first evaluation, 96 concluded the study during 18-month follow-up. The PD group presented worse performance in the neuropsychological assessment during both the initial and final evaluations. The results obtained by FreeSurfer revealed a significant reduction (unilateral or bilateral) in the volume of thalamus, caudate nucleus, putamen, hippocampus, amygdala, accumbens, corpus callosum and cerebral gray matter in the PD group. A worse cognitive outcome was more prevalent in the PD group. CONCLUSIONS: Worse cognitive performance documented by neuropsychological assessment in the PD group was correlated with reduced volume of several structures by FreeSurfer analysis and may be a biomarker of cognitive decline.

The role of diffusion magnetic resonance imaging in Parkinson's disease and in the differential diagnosis with atypical parkinsonism.

Parkinson's disease is one of the most common neurodegenerative diseases. Clinically, it is characterized by motor symptoms. Parkinson's disease should be differentiated from atypical parkinsonism conditions. Conventional magnetic resonance imaging is the primary imaging method employed in order to facilitate the differential diagnosis, and its role has grown after the development of advanced techniques such as diffusion-weighted imaging. The purpose of this article was to review the role of magnetic resonance imaging in Parkinson's disease and in the differential diagnosis with atypical parkinsonism, emphasizing the diffusion technique.

A doença de Parkinson é uma das doenças neurodegenerativas mais comuns. Clinicamente, é caracterizada por sintomas motores, devendo ser diferenciada com outras doenças que cursam com parkinsonismo, definidas como parkinsonismo atípico. A ressonância magnética convencional é o principal método de imagem para auxiliar este diagnóstico diferencial e, atualmente, seu papel tem crescido com as técnicas avançadas, como a difusão. O objetivo deste artigo é revisar o papel da ressonância magnética na doença de Parkinson e no diagnóstico diferencial com parkinsonismo atípico, com ênfase na técnica de difusão.

Fatigue in Brazilian patients with Parkinson's disease / Fadiga em pacientes brasileiros com doença de parkinson

ABSTRACT. Fatigue is a non-motor symptom of high prevalence in Parkinson's disease (PD); however, it is still unknown and neglected by health professionals. Objective: This study aimed to demonstrate the prevalence of fatigue in patients with PD after excluding confounding factors, as well as its correlation with clinical and demographic data, and to find its negative impact on the quality of life of these patients. Methods: A cross-sectional study was carried out with 237 randomly selected patients. According to inclusion and exclusion criteria, we selected 53 patients, who were then submitted to the Fatigue Severity Scale. Clinical and demographic data were also analyzed, comparing them between patients with and without fatigue. Results: We identified fatigue in 21 (39.62%) patients. Patients with and without fatigue had similar mean scores on the UPDRS-III (p=0.36), equivalent daily dose of levodopa (p=0.94), mean disease duration (p=0.43), and mean age (p<0.99). Fatigued patients had worse quality of life scores (PDQ-39) (p=0.00). We did not observe a correlation between fatigue, duration of illness (r=0.11; p=0.43), age (r=0.00; p=0.99), and UPDRS-III (r=0.20; p=0.16). Conclusions: Fatigue is a highly prevalent and independent symptom of PD. There is no correlation between age, mean duration of disease, motor impairment, and its presence. It has a negative impact on quality of life.

RESUMO. A fadiga é um sintoma não motor de elevada prevalência na doença de Parkinson, no entanto ela ainda é desconhecida e negligenciada por profissionais de saúde. Objetivo: Demonstrar a prevalência de fadiga em pacientes com doença de Parkinson após a exclusão de fatores de confusão, bem como sua correlação com dados clínicos e demográficos, comprovando seu impacto negativo na qualidade de vida desses pacientes. Métodos: Foi realizado um estudo transversal com 237 pacientes selecionados aleatoriamente. De acordo com critérios de inclusão e exclusão, escolhemos 53 pacientes, que foram então submetidos à Escala de Gravidade de Fadiga. Analisaram-se também dados clínicos e demográficos, comparando-os entre os pacientes com e sem fadiga. Resultados: Identificamos fadiga em 21 pacientes (39,62%). Pacientes com e sem fadiga apresentaram pontuação média semelhante na Escala Unificada de Avaliação para Doença de Parkinson (UPDRS-III) (p=0,36), dose diária equivalente de levodopa (p=0,94), tempo médio de duração da doença (p=0,43) e idade média (p<0,99). Pacientes fatigados apresentaram piores índices de qualidade de vida (Parkinson's Disease Questionnaire - PDQ-39) (p=0,00). Não observamos correlação entre fadiga, tempo de doença (r=0,11; p=0,43), idade (r=0,00; p=0,99) e UPDRS-III (r=0,20; p=0,16). Conclusões: A fadiga é um sintoma de alta prevalência e independente na doença de Parkinson. Não há correlação entre idade, tempo médio de duração da doença, comprometimento motor e sua presença. Possui impacto negativo na qualidade de vida.

Correlation of MRI Visual Scales with Neuropsychological Profile in Mild Cognitive Impairment of Parkinson's Disease.

Few studies have evaluated magnetic resonance imaging (MRI) visual scales in Parkinson's disease-Mild Cognitive Impairment (PD-MCI). We selected 79 PD patients and 92 controls (CO) to perform neurologic and neuropsychological evaluation. Brain MRI was performed to evaluate the following scales: Global Cortical Atrophy (GCA), Fazekas, and medial temporal atrophy (MTA). The analysis revealed that both PD groups (amnestic and nonamnestic) showed worse performance on several tests when compared to CO. Memory, executive function, and attention impairment were more severe in amnestic PD-MCI group. Overall analysis of frequency of MRI visual scales by MCI subtype did not reveal any statistically significant result. Statistically significant inverse correlation was observed between GCA scale and Mini-Mental Status Examination (MMSE), Montreal Cognitive Assessment (MoCA), semantic verbal fluency, Stroop test, figure memory test, trail making test (TMT) B, and Rey Auditory Verbal Learning Test (RAVLT). The MTA scale correlated with Stroop test and Fazekas scale with figure memory test, digit span, and Stroop test according to the subgroup evaluated. Visual scales by MRI in MCI should be evaluated by cognitive domain and might be more useful in more severely impaired MCI or dementia patients.

Symptoms of depression in patients with mild cognitive impairment in Parkinson's disease.

OBJECTIVE: To investigate the most frequent depressive symptoms and their association with cognition in Parkinson's disease (PD) patients with mild cognitive impairment (MCI). METHODS: 48 patients with PD and 44 controls (CG), aged between 50 and 80 years and with at least 4 years of formal education, all with MCI and none diagnosed with depression, were assessed. Patients and controls were matched for age, education, and Mini-Mental State Examination (MMSE) score. Participants underwent clinical evaluation with a neurologist followed by neuropsychological assessment employing the instruments: MMSE, Clock Drawing Test, Verbal Fluency Test (semantic and phonemic), Figures Memory Test (FMT), Stroop Test, Trail Making Test, Digit Span (WAIS III), Rey Auditory Verbal Learning Test (RAVLT), Hooper Visual Organization Test, and Beck Depression Inventory (BDI). RESULTS: The most frequent depressive symptoms in the PD group were: difficulty working, fatigue and sleep disorders (the latter also being present in CG). BDI score correlated negatively with learning and recognition memory in both groups. Episodic memory, evaluated by the FMT and RAVLT tests, was the cognitive function showing greatest impairment. CONCLUSION: Some of the depressive symptoms observed in PD patients with MCI seem to be attributable to complications of PD, while others are common to both PD and MCI, making differential diagnoses complex but crucial.

OBJETIVO: Investigar os sintomas depressivos mais frequentes e sua associação com a cognição de indivíduos com doença de Parkinson (DP) e declínio cognitivo leve (DCL). MÉTODOS: Foram avaliados 48 pacientes com DP e 44 Controles (GC), com idade entre 50 e 80 anos e escolaridade superior a 4 anos, todos com DCL e sem diagnóstico de depressão. Pacientes e controles foram pareados quanto à idade, escolaridade e pontuação do Mini Exame do Estado Mental (MEEM). Os participantes foram submetidos à avaliação clínica com neurologista seguida de avaliação neuropsicológica com os instrumentos MEEM, Teste do Desenho do Relógio, Teste de Fluência Verbal Semântica e Fonêmica, Teste de Memória de Figuras (FMT), Teste Stroop de Cores e Palavras, Teste das Trilhas (TMT), Span de Dígitos WAIS III, Teste de Aprendizagem Auditivo-Verbal de Rey (RAVLT), Teste de Organização Visual de Hooper e Inventário de Depressão de Beck (BDI). RESULTADOS: Os sintomas depressivos mais frequentes no grupo DP foram dificuldade para trabalhar, fatigabilidade e distúrbios do sono, sendo este comum ao grupo controle. A pontuação do BDI correlacionou-se negativamente com aprendizagem e memória de reconhecimento em ambos os grupos. Neste estudo, a memória episódica, avaliada pelos testes FMT e RAVLT, apresentou-se como a função cognitiva com maior comprometimento. CONCLUSÃO: Alguns sintomas depressivos prevalentes nos Parkinsonianos com DCL podem ser atribuídos à DP, dificultando o diagnóstico diferencial.

rs3851179 Polymorphism at 5' to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population.

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.

Parkinsonism in HIV infected patients during antiretroviral therapy - data from a Brazilian tertiary hospital.

INTRODUCTION: Advances in the treatment of HIV infection in the last decades have increased life expectancy of these patients and raise the question of what kind of effect chronic infection and its treatment might exert on the behavior of age-related conditions such as neurodegenerative diseases. PATIENT DATA: We performed a retrospective analysis of patients' records to assess the frequency of the association between HIV infection and parkinsonian symptoms in our hospital population. Among 249 records we identified four individuals with reported parkinsonian symptoms initiated after HIV diagnosis. Three of them had no other identifiable cause of secondary parkinsonism. All had symptom onset before the age of 60. Based on this study sample one could estimate an incidence rate of nearly 101 per 100.000 person/year, which is similar to the risk of Parkinson's disease in the general population above 70 years. DISCUSSION: These findings suggest that HIV infected individuals might be at a higher risk for developing parkinsonism as a manifestation of early neurodegeneration. Prospective and larger studies are needed to address this particular association and its characteristics.

Neurodegeneration with brain iron accumulation: A case report.

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.

Neurodegeneração associada à pantotenato-quinase (PKAN) é uma entidade autossômica recessiva causada pela mutação do gene PANK2. Caracteriza-se por depósito cerebral anormal de ferro, particularmente nos globos pálidos. PKAN faz parte de um grupo de desordens conhecidas como neurodegeneração com acúmulo cerebral de ferro (NBIA). Relatamos um caso de PKAN atípica com sua apresentação mais característica, sendo evidentes sintomas psiquiátricos marcados, distúrbio da fala e distonia focal. A ressonância magnética de crânio possui grande importância diagnóstica neste grupo de desordens, e neste caso, demonstrou o sinal do olho de tigre. O teste genético confirmou o diagnóstico.

Balance improvement and reduction of likelihood of falls in older women after Cawthorne and Cooksey exercises.

UNLABELLED: Vestibular system is the absolute referential for the maintenance of balance. Functional deficit with aging can result in balance disturbance and in increase of likelihood of falls. AIM: To verify whether specific therapeutic approach of the system can promote motor learning and can contribute to the improvement of balance and to decrease of likelihood of falls. STUDY DESIGN: Clinical prospective. MATERIAL AND METHOD: Fifteen women, aged 60 to 69, mean = 64.8 years old (+/- 2.95), resident in Barra Mansa-RJ, were submitted to Cawthorne and Cooksey exercises during three months, three times a week, during sixty minutes. They were evaluated with Berg Balance Scale (BBS), whose scores determine the possibility of fall (PQ). RESULTS: Comparing the data obtained before and after intervention, we observed significant difference (p< 0.05), showing improvement in BBS scores and decrease in PF. CONCLUSION: Cawthorne and Cooksey exercises were able to promote significant improvement in the balance of this sample and they can be applied as prevention and treatment in balance disturbances in elderly people.

Parkinson's disease dementia: Diagnostic criteria and risk factor review.

Cognitive impairment in Parkinson's disease (PD) greatly affects the morbidity and mortality rates of the disease and can be present as mild executive dysfunction even in the early stages. In advanced PD, the prevalence of dementia (PDD) reaches more than 80%. The Movement Disorders Society (MDS) has proposed diagnostic criteria for PDD and Mild Cognitive Impairment (MCI) in PD, raising the sensibility and specificity of those diagnoses compared with DSM IV, for example. Cognition impairment is an important issue to determine in PD because of therapeutic, epidemiologic, and prognostic factors. These guidelines should be applied to a diagnosis of PD-MCI and PDD as soon as possible in order to provide a correct diagnosis. Another important topic to discuss regarding cognition in PD is which patient would be more likely to develop PDD. There are some risk factors for cognitive impairment in PD with cumulative risk. Important risk factors related to PDD are age, time of diagnosis, rigid-akinetic phenotype, severe impairment, impairment of semantic fluency, genetic factors, low education level, and postural instability. Recognizing them is also important for early diagnosis. We discuss the diagnostic criteria of PD cognitive impairment and some aspects of risk factors related to it in this review.

Hemichorea-Hemiballismus as the First Sign of Type 1b Diabetes During Adolescence and Its Recurrence in the Setting of Infection.

Chorea may be secondary to hyperosmolar nonketotic hyperglycemia, but such situation has rarely been described in adolescents, particularly as the initial and single manifestation of type 1 diabetes. We describe a case of a previously healthy 14-year-old girl with sudden onset of choreic movements on her left upper and lower limbs. Brain computed tomography (CT) and magnetic resonance imaging (MRI) revealed an area of hyperdensity/hyperintensity affecting the right striatum. Blood glucose was 349 mg/dL. Despite adequate glucose control, the involuntary movements persisted and haloperidol, later substituted with valproate, was prescribed, with satisfactory but not complete resolution of the chorea. In 2 other occasions, when the patient had an infection and subsequent hyperglycemia, the chorea relapsed. Although not common, hyperglycemia must be considered in the differential diagnosis of acute hemichorea-hemiballismus in children and adolescents, particularly because it is a potentially reversible cause.

Obstructive sleep apnea and neurodegenerative diseases: A bidirectional relation.

Sleep disorders are common during the clinical course of the main neurodegenerative diseases. Among these disorders, obstructive sleep apnea has been extensively studied in the last decade and recent knowledge regarding its relationship with the neurodegenerative process points a bidirectional relationship. Neurodegenerative diseases can lead to functional changes in the respiratory system that facilitate the emergence of apnea. On the other hand, obstructive sleep apnea itself can lead to acceleration of neuronal death due to intermittent hypoxia. Considering that obstructive sleep apnea is a potentially treatable condition, its early identification and intervention could have a positive impact on the management of patients with neurodegenerative diseases.

Os distúrbios do sono são comuns ao longo do curso clínico das principais doenças neurodegenerativas. Dentre estes, a apneia obstrutiva do sono tem sido muito estudada na última década e avanços no conhecimento sobre sua relação com o processo neurodegenerativo tem apontando para uma relação bidirecional. As doenças neurodegenerativas podem levar a alterações funcionais no sistema respiratório que facilitam o surgimento da apneia, assim como, a própria apneia obstrutiva do sono, ao causar hipóxia intermitente, parece acarretar na aceleração do processo de morte neuronal. Considerando que a apneia obstrutiva do sono é uma condição potencialmente tratável, sua identificação e intervenção precoces podem ter impacto positivo no manejo de pacientes com doenças neurodegenerativas.