Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39%), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3% of all patients; and 6 % in the dominantly inherited SCAs. We identified the SCA2 mutation in 6% of all families and in 9% of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30 % of all patients; and in the 44% of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.

Filtros de areia aplicados à irrigação localizada: teoria e prática

The application of sand filters in localized irrigation systems is recommended in the presence of organic and algae contamination. The proper design and maintenance of these equipments are essential to assure an effective water quality control, in order to reduce the emitters clogging, to keep its water application uniformity, and to prevent increasing in the system operation costs. Despite the existence of some references about design, operation and maintenance of these filters, they are dispersed, with not enough details to guarantee the optimization of its hydraulics structure design and the proper selection of porous media to be used. Therefore, the objective of this work was to report a current literature review, relating practical information with scientific knowledge. The content of this review would help to induce and intensify the research on this subject and to contribute so the operational functions for the equipment are reached. It is also expected to assist the improvement of the filtration and flushing processes in the agricultural irrigation and the development of original design procedures and the rational use of these devices.