No abstract

Objective ANO5‐related myopathy is an important cause of limb‐girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease worldwide is unclear. We provide a detailed characterization of a large Brazilian cohort of ANO5 patients. Methods A national cross‐sectional study was conducted to describe clinical, histopathological, radiological, and molecular features of patients carrying recessive variants in ANO5. Correlation of clinical and genetic characteristics with different phenotypes was studied. Results Thirty‐seven patients from 34 nonrelated families with recessive mutations of ANO5 were identified. The most common phenotype was LGMD, observed in 25 (67.5%) patients, followed by pseudometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCKemia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patients presented axial involvement, including one patient with isolated axial weakness. The most affected muscles according to MRI were the semimembranosus and gastrocnemius, but paraspinal and abdominal muscles, when studied, were involved in most patients. Fourteen variants in ANO5 were identified, and the c.191dupA was present in 19 (56%) families. Sex, years of disease, and the presence of loss‐of‐function variants were not associated with specific phenotypes. Interpretation We present the largest series of anoctaminopathy outside Europe. The most common European founder mutation c.191dupA was very frequent in our population. Gender, disease duration, and genotype did not determine the phenotype.

INTRODUCTION: There are few epidemiologic studies concerning Guillain-Barré syndrome (GBS). Due to difficulties with definition and lack of a standard diagnostic test of reference, GBS is not easy to study epidemiologically. We evaluate some epidemiological features of GBS in a sample of cases treated at a tertiary hospital in São Paulo, Brazil. METHOD: We retrospectively reviewed all cases of GBS with hospitalization in Santa Marcelina hospital, over the period of January 1995 through December 2002. RESULTS: Ninety-five cases were included in this study. Fifty-five were men and forty women, with a proportion of 1.4 men to 1 woman. The age ranged from 1 to 83 years with a mean age at onset of 34 years. GBS was less frequently observed below 15 years (18.9%) and above 60 years (16.9%). The highest frequency was observed in patients aged 15 to 60 years old (66.2%). The annual incidence rate was 0.6 cases/100,000 people. There was a highest frequency of cases during the months of September through March (62.1%). CONCLUSION: Our data differs from that of other epidemiological studies in that we did not observe a bimodal distribution in age and found a seasonal pattern in hotter months.

-There are very few reports about prevalence of presenile dementia in Brazil. We reviewed files of patients evaluated with early onset of cognitive impairment in our institution. Among 141 patients (61% males) there was no difference between gender by age at onset or at first evaluation. We have observed an increasing number of patients after 50 years. The most frequent causes were: vascular dementia (36.9%), Alzheimer's disease (20.3%) and traumatic brain injury (9.2%). There was difference among dementia type by age of onset and first evaluation, educational level and length of dementia. These results may be compared with those from other neurologic services in order to replicate or confirm these results.KEY WORDS: presenile dementia, vascular dementia, Alzheimer's disease, epidemiology. Prevalência de demência pré-senil num ambulatório terciárioRESUMO -Em nosso meio há raros estudos que verifiquem quais as causas mais prevalentes de demência pré-senil. Avaliamos retrospectivamente os prontuários de pacientes com início precoce de alterações cognitivas, ambulatório de Neurologia da Cognição do Hospital Santa Marcelina. Entre os 141 sujeitos (61% de homens) não houve diferença quanto às idades de início e à primeira consulta e escolaridade entre os sexos. Observamos aumento no número de demência após os 50 anos. A causa mais freqüente foi vascular (36,9%), seguida por doença de Alzheimer (20,3%) e secundária a trauma cranio encefálico (9,2%). Houve diferença entre os tipos de demência quanto à idade na primeira consulta e idade de início, escolaridade e duração do quadro. Ao contrário de outros estudos o diagnóstico mais freqüente foi demência vascular. Novos estudos em nosso meio deverão ser realizados para avaliar este achado nas demências de início precoce.PALAVRAS-CHAVE: demência pré-senil, demência vascular, doença de Alzheimer, epidemiologia.Dementia is a disorder of greater prevalence in older subjects, but many cases can begin in an early age, affecting people in a productive phase of their lives. A syndrome characterized by many cognitive deficits of sufficient severity to interfere with daily life activities and in quality of life. It is a public health problem due its expensive treatment and dependence of patients for governmental sources for sustainability. There are a few studies in epidemiology of presenile dementia comparing to an older onset or familiar Alzheimer's disease (AD) [1][2][3] . The prevalence of presenile dementia is lower that ones with onset in the elderly. Harvey et al. 4 reported that the prevalence increases exponentially between 45 to 60 years of age; this finding was replicated by another three epidemiological studies [5][6][7] . The most frequent diagnosis in early onset dementia is:Alzheimer's disease, followed by vascular dementia (VaD) and frontotemporal dementia (FTD) 8 . There are no studies analyzing the prevalence of presenile dementia in our country in a search in MEDLINE. Other authors have reported diagnostic prevalence in senile dementia or overall rates o...

In the early sixties, a discussion started regarding the association between Parkinson's disease (PD) and type II diabetes mellitus (T2DM). Today, this potential relationship is still a matter of debate. This review aims to analyze both diseases concerning causal relationships and treatments. A total of 104 articles were found, and studies on animal and “in vitro” models showed that T2DM causes neurological alterations that may be associated with PD, such as deregulation of the dopaminergic system, a decrease in the expression of peroxisome proliferator-activated receptor-gamma coactivator-1α (PGC-1α), an increase in the expression of phosphoprotein enriched in diabetes/phosphoprotein enriched in astrocytes 15 (PED/PEA-15), and neuroinflammation, as well as acceleration of the formation of alpha-synuclein amyloid fibrils. In addition, clinical studies described that Parkinson's symptoms were notably worse after the onset of T2DM, and seven deregulated genes were identified in the DNA of T2DM and PD patients. Regarding treatment, the action of antidiabetic drugs, especially incretin mimetic agents, seems to confer certain degree of neuroprotection to PD patients. In conclusion, the available evidence on the interaction between T2DM and PD justifies more robust clinical trials exploring this interaction especially the clinical management of patients with both conditions.