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Occupational therapy in spinocerebellar ataxia type 3: an open-label trial

Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life. OT is part of the clinical rehabilitation of progressive genetic neurodegenerative diseases such as spinocerebellar ataxias; however, its effects have never been determined in these diseases. Our aim was to investigate the ...

Genomic analysis of Brazilian patients with Fabry disease

Fabry disease is an X-linked lysosomal disorder due to a-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary to involvement of kidney, heart and the central nervous system. Detection of female carriers based solely on enzym...

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Astrocytic reaction in the canine granulomatous meningoencephalomyelitis

A meningoencefalomielite granulomatosa (MEG) ocorre em cães de todas as raças, em qualquer idade e já foi descrita em vários países. Sua etiologia não é definida, mas sugere-se que uma reação de hipersensibilidade retardada esteja envolvida. Nas lesões há ocorrência de profuso infiltrado de células B e T, além de macrófagos. No presente estudo verificou-se, com técnicas de imunoistoquímica, a distribuição e a m...

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and ...

Abstract The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4-SCA8, SCA10, MJD, and DRPLA). The mutant proteins have shown an expanded polyglutamine tract in SCA1, SCA2, MJD/SCA3, SCA6, SCA7, and DRPLA; a glycine-to-arginine substitution was found in SCA6 as well. Recently, an untranslated (CTG)n expansi...

Neuronal vacuolation and spongiform lesions in young Rottweiler dogs

Descreve-se a ocorrência de vacuolização neuronal e lesões espongiformes no sistema nervoso central (SNC) de dois cães jovens da raça Rottweiler, um macho e uma fêmea, pertencentes à mesma ninhada de oito filhotes. Os sinais clínicos e neurológicos apareceram aos três meses de idade e foram progressivos, tornando-se graves e compreendendo ataxia inicial dos membros pélvicos, com evolução para ataxia generalizad...