Machado-Joseph disease is one of the most common hereditary spinocerebellar degenerative disorders with a wide range of clinical manifestations. Pathology studies have shown mild to moderate loss of anterior horn cells and, in terms of spinal pathology, Machado-Joseph disease is regarded as a type of lower motoneuron disease. Muscle cramps are often associated with lower motoneuron disorders, b...

Several countries had an increase in female labour participation during the twentieth century. Even so, few of them can be proud of the conditions these women faced in dealing with family responsibilities and the labour market. This paper analyses the occupational distribution of men and women from 1978 to 2007 using the microdata of Pnad. It shows that women are entering traditional male occup...

INTRODUCTION Chronic pain is a common problem for patients with Machado-Joseph disease. Most of the chronic pain in Machado-Joseph disease has been reported to be of musculoskeletal origin, but now there seems to be different chronic pain in patients with Machado-Joseph disease. CASE PRESENTATION A 29-year-old man (Han Chinese, Hoklo) with Machado-Joseph disease experienced severe chronic pai...

Machado de Assis (1839-1908) is considered the most important Brazilian writer and a great universal literary figure. Little is know about his medical, personal and family history. He hid his "disease" as much as possible. Machado referred to "strange things" having happened to him in his childhood. He described seizures as "nervous phenomena", "absenses", "my illness". Laet observed a seizure ...

OBJECTIVES The metabolic changes in the brain of symptomatic subjects affected with Machado-Joseph disease have been previously documented using PET with fluorine-18-fluorodeoxyglucose (FDG). The aim of this study was to evaluate these changes in asymptomatic Machado-Joseph disease gene carriers. METHODS Seven asymptomatic Machado-Joseph disease gene carriers, identified using a molecular tes...

Machado-Joseph disease is the most frequently found dominantly-inherited cerebellar ataxia. Over-repetition of a CAG trinucleotide in the MJD1 gene translates into a polyglutamine tract within the ataxin 3 protein, which upon proteolysis may trigger Machado-Joseph disease. We investigated the role of calpains in the generation of toxic ataxin 3 fragments and pathogenesis of Machado-Joseph disea...

CONTEXT In Machado-Joseph disease, poor posture, dystonia and peripheral neuropathy are extremely predisposing to oropharyngeal dysphagia, which is more commonly associated with muscular dystrophy. OBJECTIVE To evaluate the clinical characteristics of oropharyngeal dysphagia in Machado-Joseph disease patients. METHOD Forty individuals participated in this study, including 20 with no clinica...

Despite profound distributional concerns, studies on undernutrition in India (or elsewhere) have exclusively focused on inter-personal inequalities whereas estimates regarding the magnitude of intersecting inequalities are unavailable. As such, an explicit concern for horizontal intersecting inequalities not only substantiates the intrinsic concern for equity but also offers vital policy insigh...

Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide and is characterized by mutant ataxin-3 misfolding, intracellular accumulation of aggregates and neuronal degeneration. Here we investigated the implication of autophagy, the major pathway for organelle and protein turnover, in the accumulation of mutant ataxin-3...

http://dx.doi.org/10.1016/j.infsof.2014.04.002 0950-5849/ 2014 Elsevier B.V. All rights reserved. ⇑ Corresponding author. Tel.: +55 71 9183 9735. E-mail addresses: [email protected] (I.d.C. Machado), [email protected] (J.D. McGregor), [email protected] (Y.C. Cavalcanti), [email protected] Almeida). Ivan do Carmo Machado a,⇑, John D. McGregor , Yguaratã Cerqueira Cavalcanti , Eduardo Santa...