Learn More
A 16-nation study involving 8,360 participants revealed that hostile and benevolent attitudes toward men, assessed by the Ambivalence Toward Men Inventory (P. Click & S.T. Fiske, 1999), were (a) reliably measured across cultures, (b) positively correlated (for men and women, within samples and across nations) with each other and with hostile and benevolent(More)
CONTEXT Machado-Joseph disease (MJD/SCA3) is an autosomal dominant cerebellar ataxia of adult onset. The variability in age at onset and the complex and heterogeneous neurologic findings indicate that MJD, caused by a major gene, is modulated by modifier factors. OBJECTIVE To study if the polymorphic CAG repeats at other loci (namely, SCA2, SCA6 and(More)
Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals homozygous for the N350S and 1524+95A<--G mutations were detected, corresponding to a frequency of 1.17%(More)
OBJECTIVE To examine the clinical, genetic, and molecular characteristics of a group of MJD patients recently identified in the southernmost state of Brazil, and compare these data with studies from the literature. METHODS Some 62 individuals from 35 families, mostly of Azorean ancestry, had their clinical data and their MJD1 expanded regions examined. (More)
CONTEXT Machado-Joseph disease (MJD), an autosomal dominant spinocerebellar degeneration caused by an expanded CAG repeat on chromosome 14q32.1, is a heterogeneous disorder for clinical manifestations. The reasons for the wide range of neurologic findings in this disease are poorly understood. OBJECTIVE To explain part of this heterogeneity through the(More)
PURPOSE To evaluate the clinical outcome of penetrating keratoplasty (PK) in iridocorneal endothelial (ICE) syndrome. METHODS Clinical charts of patients who underwent penetrating keratoplasty for ICE syndrome between 1985 and 1999 were reviewed retrospectively. Glaucoma control, best corrected visual acuity pre- and post-PK, graft clarity, graft(More)
OBJECTIVE Machado-Joseph disease (MJD), an autosomal dominant spinocerebellar degeneration caused by an expanded CAG repeat on chromosome 14q32.1, is a disorder with wide range of neurological findings and brain regions involved. Studies evaluating neurophysiological parameters related to sensory gating in MJD are lacking. METHODS This study intends to(More)
BACKGROUND NSE and S100B are considered as neuronal and glial peripheral markers of central nervous system pathologies, respectively. We evaluated the potential use of S100B and NSE serum concentrations as peripheral markers of symptomatic patients with Machado Joseph disease (MJD). METHODS We measured S100B and NSE peripheral concentrations of 22 MJD(More)
CONTEXT Machado-Joseph Disease (MJD/SCA3) is an autosomal dominant spinocerebellar degeneration that evolves to disability and death. Experimental data have shown that serotonin is an important cerebellar neurotransmitter and that impairment of the serotoninergic cerebellar system can induce cerebellar ataxia. OBJECTIVES To evaluate the efficacy of(More)