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Environmental-Genetic Interactions in the Pathogenesis of Parkinson’s Disease
Yoshio Tsuboi 한국뇌신경과학회 2012 Experimental Neurobiology Vol.21 No.3
To date, numerous case-control studies have shown the complexity of the pathogenesis of Parkinson’s disease (PD). In terms of genetic factors, several susceptibility genes are known to contribute to the development of PD, including α-synuclein (SNCA), leucine-rich repeat kinase 2 (LRRK2), and glucocerebrosidase (GBA). In addition, numerous recent epidemiological studies have shown that several environmental factors are either risk factors for PD or protective factors against PD. Risk factors identified include herbicides and pesticides (e.g., paraquat, rotenone, and maneb), metals (e.g., manganese and lead), head trauma, and well water. In contrast, smoking and coffee/caffeine consumption are known to be protective against PD. A recent finding in this field is that environmental-genetic interactions contribute more to the pathogenesis of PD than do genetic factors or environmental factors alone. In this review, I will discuss how these interactions promote the development of PD.
Perry disease: the concept of new disease and clinical diagnostic criteria
Yoshio Tsuboi,Takayasu Mishima,Shinsuke Fujioka 대한파킨슨병및이상운동질환학회 2021 Journal Of Movement Disorders Vol.14 No.1
Perry disease is a hereditary neurodegenerative disease with autosomal dominant inheritance. It is characterized by parkinsonism, psychiatric symptoms, unexpected weight loss, central hypoventilation, and transactive-response DNA-binding protein of 43kD (TDP-43) aggregation in the brain. In 2009, Perry disease was found to be caused by dynactin I gene (DCTN1), which encodes dynactin subunit p150 on chromosome 2p, in patients with the disease. The dynactin complex is a motor protein that is associated with axonal transport. Presently, at least 8 mutations and 22 families have been reported; other than the “classic” syndrome, distinct phenotypes are recognized. The neuropathology of Perry disease reveals severe degeneration in the substantia nigra and TDP-43 inclusions in the basal ganglia and brain stem. How dysfunction of the dynactin molecule is related to TDP-43 pathology in Perry disease is important to elucidate the pathological mechanism and develop new treatment.
( Mayumi Toyama ),( Yasuyuki Okuma ),( Mitsutoshi Yamamoto ),( Kenichi Kashihara ),( Kazuto Yoshda ),( Hidemoto Saiki ),( Tetsuya Maeda ),( Yoshio Tsuboi ),( Takeo Nakayama ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
Background: Parkinson`s disease (PD) is increasingly recognized as multidimensional disorder. In addition to classic motor symptoms, patients have a variety of non-motor symptoms (NMS) that substantially affect quality of life (QoL). However, the prevalence of NMS and the relative impact of non-motor symptoms on QoL in PD have not been well documented in Japanese PD patients. In this study, we have the following objectives: 1) To determine the prevalence of NMS in Japanese PD patients. 2) To study the impact of NMS on the QoL in Japanese PD patients. Methods: This was a multi-center cross-sectional epidemiologic study. We recruited outpatients from seven Neurology departments at general hospitals across Japan between October 2010 and September 2011. A total of 824 Japanese PD patients was included in this study. NMS of patients was evaluated by Non-Motor Symptoms Scale (NMSS). Parkinson`s Disease Questionnaire-39 (PDQ-39) was used to evaluate the QoL of PD patients. Multivariate analyses were used to evaluate the direct impact of NMSs on QoL using PDQ-39, after adjusting for age, sex, disease duration, and the Unifi ed Parkinson`s Disease Rating Scale (UPDRS) Part I, Part II, Part III and Part IV. Results: The mean of total NMSS score was 37.4±35.4. The highly prevalent NMSS domains were sleep/fatigue (87.6%) and urinary (86.1%). The highly prevalent NMSS items were nocturia (72.0%) and constipation (71.6%). In multivariate analyses after adjustment for age, sex, disease duration, UPDRS Part I, Part II, Part III, and Part IV, total score of NMSS has statistical signifi cance with PDQ-39 (p=0.00, ß=0.16, Adj-R squared=0.65). Conclusions: NMS were highly prevalent in Japanese PD patients. NMS have a direct negative impact on QoL in Japanese PD patients.