Exon dosage variations in Brazilian patients with Parkinson's disease: Analysis of SNCA, PARKIN, PINK1 and DJ-1 genes

Abstract. Parkinson's disease is one of the most common neurodegenerative disorders associated with aging, reaching ∼ 2% of individuals over 65 years. Knowledge achieved in the last decade about the genetic basis of Parkinson's disease clearly shows that genetic factors play an important role in the etiology of this disorder. Exon dosage variations account for a high proportion of Parkinson's disease mutations, mainly for PARKIN gene. In the present study, we screened genomic rearrangements in SNCA, PARKIN, PINK1 and DJ-1 genes in 102 Brazilian Parkinson's disease patients with early onset (age of onset 50 years), using the multiplex ligation-dependent probe amplification method. Family history was reported by 24 patients, while 78 were sporadic cases. Screening of exon dosage revealed PARKIN and PINK1 copy number variations, but no dosage alteration was found in SNCA and DJ-1 genes. Most of the carriers harbor heterozygous deletions or duplications in the PARKIN gene and only one patient was found to have a deletion in PINK1 exon 1. Data about dosage changes are scarce in the Brazilian population, which stresses the importance of including exon dosage analysis in Parkinson's disease genetic studies

Tremor: adaptação de uma escala clínica Tremor: adaptation of a clinical scale

Adaptamos a escala clínica para avaliação de tremor de Fahn, Tolosa e Marín para a monitorização em nosso meio dos pacientes com tremor. Aplicamos essa escala em 123 pacientes com esse distúrbio do movimento, sem restrição etiológica ou de faixa etária, selecionados aleatoriamente no Ambulatório de Medicina Integral e no Serviço de Pronto Atendimento do Hospital Universitário Pedro Ernesto da Universidade do Estado do Rio de Janeiro. Embora tenham sido observadas algumas variáveis influenciando nos escores da escala, estas não parecem ser relevantes para alterar a padronização da mesma e sua aplicabilidade clínica.The Fahn, Tolosae Mann's clinical rating scale for tremor was adapted to our country for evaluation of tremor. This scale was applied to 123 patients with this movement disorder, selected from the Ambulatory of General Medicine at Hospital Universitário Pedro Ernesto from Universidade do Estado do Rio de Janeiro. These patients had been chosen no matter the etiology of their condition or their age. Although some variants may had influenced the scores of this particular scale, they did not seem to change its standardization and applicability

Primary progressive freezing gait: case report Marcha congelada progressiva primária: relato de caso

The clinical features of the primary progressive freezing gait, a rare and distinct neurological entity, have been described in some articles. This paper describes this gait disorder affecting one patient, whose condition's long course provoked no postural instability. As stated in the literature, the pathophysiology of the primary progressive freezing gait still remains unclear, although the lack of response to levodopa therapy suggests a possible involvement of nondopaminergic pathways. Alteration in the visual perception may be a potential cause for the condition.Uma rara e distinta entidade neurológica, a marcha congelada progressiva primária, tem sido relatada na literatura. Descrevemos o caso de um paciente com este distúrbio da marcha que, apesar do longo curso da doença, não apresentava instabilidade postural. Como citado na literatura, a fisiopatologia desta condição permanece obscura, embora a falta de resposta à levodopa sugira uma possível participação de vias não dopaminérgicas. Alteração na percepção visual também pode estar envolvida na gênese desta afecção