Background: Mutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe.

No abstract

Introduction.Camptocormia is an extreme flexion of the toracolumbar spine that exacerbates by walking and is relieved in the supine position. It is described with increasing frequency in association with Parkinson disease (PD). Its pathogenesis remains unclear. One of the hypotheses proposed defends that when associated with PD probably it is a focal action dystonia of the paraspinal muscles. Dystonia may be accompanied of a "geste antagoniste". It is a kind of trick that enables the patient to alleviate dystonic posture. We present two cases in which the patients use sensory tricks to alleviate their posture during gait. Case Reports. Patient 1: A 74-year-old woman, with a 2-year of PD. Clinical examination disclosed parkinsonian signs and camptocormia. She was able to partially overcome it by pushing her hands against her thighs. Patient 2: A 80-year-old woman, with a 1-year probable PD. Neurological examination revealed postural instability, freezing gait and camptocormia that partially remits when she pushes a bar at the level of her waist. Conclusions. The particularity of these cases is that patients are able to improve camptocormia during gait by specific tricks. This clinical improvement supports the hypothesis that camptocormia in PD is a focal dystonia of the paraspinal muscles.

A doença de Parkinson (DP) é um distúrbio neurológico degenerativo que compromete progressivamente células presentes na substância negra e produtoras de dopamina. Na medida em que há progressão dos sintomas as PDP tendem a experimentar deterioração da função motora. Objetivo: analisar os efeitos do treinamento motor associado a ETCC pré-condicionante sobre a ETCC ativa no desempenho motor PDP. Método: Trata-se de um estudo longitudinal prospectivo, quantitativo e experimental, do tipo cross over composta por indivíduos recrutados a partir de Centros de referência em desordens do movimento, ambulatórios médicos de neurologia e de fisioterapia do HULW da UFPB diagnosticados com Doença de Parkinson Idiopática. As intervenções fisioterapêuticas foram realizadas na Clínica escola de Fisioterapia UFPB, entre agosto/ 2018 a julho de 2019 após aprovação do Comitê de ética em pesquisa (CEP) do Centro de Ciências da Saúde (CCS) da UFPB. Resultados: Considerando o fator tempo, quando comparado os dados da linha de base e pós intervenção, observou-se diferença significativa em ambos os grupos para o BBT, NHPT e MDS-UPDRS III. Diferentemente, na comparação dos desfechos entre grupos, para todas as medidas de resultados, não foram observadas diferenças significativas para o fator grupo. Discussão: Os resultados do presente estudo sugerem que os efeitos do protocolo de treinamento sobre o desempenho motor não foram influenciados pela polaridade da pré estimulação, utilizando a ETCC. Tanto a estimulação anódica ativa pode ter influenciado na melhora do desempenho motor, como o próprio treinamento motor, ou ambos, já que estavam presentes nos dois grupos. Conclusão: Os resultados obtidos no presente estudo demonstram que a pré estimulação (anódica e catódica) por meio da ETCC não foi capaz de potencializar os efeitos da estimulação anódica ativa em M1 associado a treinamento motor, uma vez que ambos os grupos apresentaram melhora no desempenho motor.

BackgroundHandicap is a patient‐centered measure of health status that encompasses the impact of social and physical environment on daily living, having been assessed in advanced and late‐stage Parkinson's Disease (PD).ObjectiveTo characterize the handicap of a broader sample of patients.MethodsA cross‐sectional study of 405 PD patients during the MDS‐UPDRS Portuguese validation study, using the MDS‐UPDRS, Unified Dyskinesias Rating Scale, Nonmotor symptoms questionnaire, PDQ‐8 and EQ‐5D‐3L. Handicap was measured using the London Handicap Scale (LHS).ResultsMean age was 64.42 (±10.3) years, mean disease duration 11.30 (±6.5) years and median HY 2 (IQR, 2–3). Mean LHS was 0.652 (±0.204); “Mobility,” “Occupation” and “Physical Independence” were the most affected domains. LHS was significantly worse in patients with longer disease duration, older age and increased disability. In contrast, PDQ‐8 did not differentiate age groups. Handicap was significantly correlated with disease duration (r = −0.35), nonmotor experiences of daily living (EDL) (MDS‐UPDRS‐I) (r = −0.51), motor EDL (MDS‐UPDRS‐II) (r = −0.69), motor disability (MDS‐UPDRS‐III) (r = −0.49), axial signs of MDS‐UPDRS‐III (r = −0.55), HY (r = −0.44), presence of nonmotor symptoms (r = −0.51) and PDQ‐8 index (r = −0.64) (all P < 0.05). Motor EDL, MDS‐UPDRS‐III and PDQ‐8 independently predicted Handicap (adjusted R2 = 0.582; P = 0.007).ConclusionsThe LHS was easily completed by patients and caregivers. Patients were mild‐moderately handicapped, which was strongly determined by motor disability and its impact on EDL, and poor QoL. Despite correlated, handicap and QoL seem to differ in what they measure, and handicap may have an added value to QoL. Handicap seems to be a good measure of perceived‐health status in a broad sample of PD.