Brain derived neurotrophic factor (BDNF) has been related to neuroprotection in a series of central nervous system diseases, although its role in multiple sclerosis (MS) was only partially investigated. In this work, we aimed to evaluate the plasma levels of BDNF from 29 MS patients and 24 control subjects. MS patients had decreased levels of BDNF in comparison with healthy controls. BDNF levels increased significantly after MS relapse. Our results provide some evidence for the involvement of BDNF in the pathogenesis of MS and suggest a role for this neurotrophin during the recovery of acute demyelinating inflammatory lesion.

Although uncommon, severe depression with suicide ideation or attempts may be observed during treatment of MS with IFN-beta. This association should not discourage the use of this drug, but physicians need to be aware of this possible adverse event from IFN-beta.

No abstract

Objective: To investigate the prevalence of psychiatric disorders in patients with myasthenia gravis (MG). Method: Forty-one patients with MG answered to a structured psychiatric interview (MINI-Plus). Results: Eleven (26.1%) patients were diagnosed with a depressive disorder and 19 (46.3%) were diagnosed with an anxiety disorder. Patients with dysthymia were older (p=0.029) and had longer disease duration (p=0.006). Patients with social phobia also had longer disease duration (p=0.039). Conclusion: Psychiatric disorders in MG are common, especially depressive and anxiety disorders.

Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. A broad range of studies have been published focusing on Pompe patients from different countries, but none from Brazil. We investigated 41 patients with either infantile-onset (21 cases) or late-onset (20 cases) disease by muscle pathology, enzyme activity and GAA gene mutation screening. Molecular analyses identified 71 mutant alleles from the probands, nine of which are novel (five missense mutations c.136T> G, c.650C > T, c.1456G > C, c.1834C > T, and c.1905C > A, a splice-site mutation c.1195-2A > G, two deletions c.18_25del and c.2185delC, and one nonsense mutation c.643G > T). Interestingly, the c.1905C > A variant was detected in four unrelated patients and may represent a common Brazilian Pompe mutation. The c.2560C > T severe mutation was frequent in our population suggesting a high prevalence in Brazil. Also, eight out of the 21 infantile-onset patients have two truncating mutations predicted to abrogate protein expression. Of the ten late-onset patients who do not carry the common late-onset intronic mutation c.-32-13T > G, five (from three separate families) carry the recently described intronic mutation, c.-32-3C > A, and one sibpair carries the novel missense mutation c.1781G > C in combination with known severe mutation c.1941C > G. The association of these variants (c.1781G > C and c.-32-3C > A) with late-onset disease suggests that they allow for some residual activity in these patients. Our findings help to characterize Pompe disease in Brazil and support the need for additional studies to define the wide clinical and pathological spectrum observed in this disease.

No abstract

Plasma BDNF level is increased in SLE patients and this increase is independent of the occurrence of NP manifestations. In addition, plasma BDNF levels increased with control of SLE activity, which points to the potential use of BDNF as a biomarker of response to treatment.

Multiple sclerosis (MS) is a demyelinating inflammatory and degenerative disease of the central nervous system (CNS) whose etiology is still unknown. Epidemiological studies have suggested that the interaction between genetic susceptibility and a variety of environmental factors may play a key role accounting for the differences in its prevalence in distinct populations 1 .In the last few decades, a large number of studies have demonstrated the frequency of MS in all continents 2 . Unfortunately, however, many of these epidemiological studies lack consistent methodological features, such as strict diagnostic criteria, well defined study populations or geographical areas, and complete case ascertainment 3 . Such faults have rendered their results unreliable for comparisons with established data from other geographical areas 2,3 . In Latin America, surveys on the epidemiology of MS are still scanty and most of them exhibit these methodological limitations [4][5][6][7][8] .Interest in the study of MS in Brazil has markedly increased in the last few years. Yet, most investigations have focused on clinical description of hospital-based or MS Centers cohorts in different parts of the country [9][10][11][12][13][14][15][16] . Other studies have concentrated on the association with HLA 17,18 , the influence of ethnic factors on the phenomenological presentation of the disease 19 ; the neuropsychological aspects of the disease 20,21 and the impact of the disease on patients' quality of life 22 .Three papers on the prevalence of MS in well-defined geographical areas in Brazil have been so far published. The first study, in São Paulo city, considered 1990 as the prevalence year and showed a prevalence rate of 4.3 per 100,000 inhabitants 23 . A re-evaluation of this prevalence rate by the same senior author 24 took 1997 as the prevalence year and, through the use of aBstract Investigations on the prevalence rates of multiple sclerosis (MS) around the world have yielded important clues on the interplay between genetic susceptibility and environmental factors. As Brazil is a huge country laid on many latitudes and inhabited by population with distinct ethnic backgrounds, it might be assumed that the frequency of MS varies in its different regions. Objective: To determine the prevalence rate of MS in Belo Horizonte, the capital of the State of Minas Gerais, Southeastern Brazil. Methods: We used six sources to draw up a provisional list of identified cases of MS. Only patients with diagnosis of clinically definite MS according to Poser Committee criteria were included. Results: The calculated crude MS prevalence was 18.1/100,000 inhabitants. Conclusions: The MS prevalence in Belo Horizonte is similar to that found in São Paulo and Botucatu, two other cities in southeastern Brazil with similar ethnic background.Key words: multiple sclerosis, prevalence, Belo Horizonte, Southeastern Brazil.resumo Estudos sobre as taxas de prevalência da esclerose múltipla (EM) no mundo têm fornecido importantes evidências do papel da inter-relaçã...