Validation of a screening questionnaire for X‐linked dystonia parkinsonism: The first phase of the population‐based prevalence study of X‐linked dystonia parkinsonism in Panay
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Abstract Background The current prevalence of X‐linked dystonia parkinsonism is not known. No screening tool for the condition exists. By developing a screening questionnaire, the present study is intended to be the first step in identifying the prevalence of the disease. Aim To develop and validate a simple, easy to use, community‐based, screening questionnaire for the diagnosis of X‐linked dystonia parkinsonism. Methods Community health workers administered an 11‐item yes/no questionnaire in the native Panay island language to 54 genetically‐confirmed X‐linked dystonia parkinsonism patients and 54 healthy controls from the island of Panay. The questionnaire is made up of elements from existing questionnaires on Parkinson's disease and dystonia, and known clinical features of the disease. The participants were partitioned into training ( n = 88) and test ( n = 20) datasets. To select which items were predictive of X‐linked dystonia parkinsonism, the Clinical Utility Index of each item was determined. Afterwards, multivariable binary logistic regression was done to build a predictive model that was run on the test dataset. Results Four items on “sustained twisting,” “jaw opening and closing,” “slowness in movement” and “shuffling steps” were found to be the most predictive of X‐linked dystonia parkinsonism. All had at least a “good” Clinical Utility Index. The questions showed 100% sensitivity and 90% specificity (95% CI 65.6–100%) in identifying cases. Conclusions The resulting four‐item questionnaire was found to be predictive of X‐linked dystonia parkinsonism. The screening instrument can be used to screen for X‐linked dystonia parkinsonism in a prevalence study.Abstract Multiple genes have been associated with monogenic Parkinson’s disease and Parkinsonism syndromes. Mutations in PINK1 (PARK6) have been shown to result in autosomal recessive early onset Parkinson’s disease. In the past decade, several studies have suggested that carrying a single heterozygous PINK1 mutation is associated with increased risk for Parkinson’s disease. Here we comprehensively assess the role of PINK1 variants in Parkinson’s disease susceptibility using several large datasets totalling 376,558 individuals including: 13,708 Parkinson’s disease cases and 362,850 controls. After combining these data, we did not find evidence to support a role for heterozygous PINK1 mutations as a risk factor for Parkinson’s disease.
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MicroRNAs (miRNAs), one kind of post-transcriptional modification, mediate transcriptional silencing of various metabolic enzymes that are involved in various life processes, including Parkinson's disease. At present, the pathogenesis of Parkinson's disease is not clear, although many studies suggest that miRNAs play a very important role in the progress of Parkinsonism. This paper reviews the biological characteristics of miRNAs and summarizes the progress of miRNAs in reference to the diagnosis and pathogenesis of Parkinson's disease. It even considers miRNAs as a potential target for Parkinson's disease therapy.
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Parkinson's disease (PD) is a progressive neurodegenerative disease representing the most common movement disorder worldwide. It is characterized clinically by its cardinal motor features: bradykinesia, rigidity, postural instability, and resting tremor. The clinical diagnosis of PD is mainly based on the presence of these motor symptoms which differentiate it from the other forms of parkinsonism. However, recently other symptoms known as non-motor symptoms (NMS) are ginning attention because of their negative outcome on PD patients, and they are now included in the clinical diagnosis of the disease. Current lines treatments are generally based on DA replacement and are associated with significant alleviation of motor symptoms and some NMS. However, such treatments have not been shown to decrease or halt the disease progression. Moreover, as the disease progresses, these symptomatic treatments can worsen the disease diagnosis and management.
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Although components of possible Parkinson's disease can be found in very early documents, the first clear medical description was written in 1817 by James Parkinson. In the mid-1800s, Jean-Martin Charcot was particularly influential in refining and expanding this early description and in disseminating information internationally about Parkinson's disease. He separated Parkinson's disease from multiple sclerosis and other disorders characterized by tremor, and he recognized cases that later would likely be classified among the Parkinsonism-plus syndromes. Early treatments of Parkinson's disease were based on empirical observation, and anticholinergic drugs were used as early as the nineteenth century. The discovery of dopaminergic deficits in Parkinson's disease and the synthetic pathway of dopamine led to the first human trials of levodopa. Further historically important anatomical, biochemical, and physiological studies identified additional pharmacological and neurosurgical targets for Parkinson's disease and allow modern clinicians to offer an array of therapies aimed at improving function in this still incurable disease.
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The termParkinson diseasedefines a specific clinical condition characterized by a typical history and characteristic signs. This review examines the historical evolution of the concept of Parkinson disease and how the misunderstanding of Parkinson disease may be hindering clinical research trials. It is proposed that this syndrome be calledParkinson diseasesorparkinsonism type 1 through infinity.
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Parkinson's disease is referred to as Kampavata in Ayurveda. Lakshanika Chikitsa is commonly associated with the various stages of disease in Ayurveda, adding importance to the prevention of further derangement. However, the development of the sickness may be understood using the multiple definitions of Bahukampavata, Snayugatavata, Kaphavruta Vyanavata, and Kampavata. Parkinson's disease is a mental illness in which 70% of the existence of Parkinson's disease is compensated, since Parkinsonism is typically treated more well in Ayurveda. In actuality, Parkinson's disease is a term used to describe persons who have Parkinson's disease but don't have any unusual symptoms and have a standard MRI that excludes all possible causes of their Parkinsonian symptoms. The main difference between the two is the medication's effect on Parkinson's disease and not the other. Parkinson's disease, the second most common neurodegenerative illness after Alzheimer's disease, affects around 1 in 1000 persons in the general population and 1% of those over 65 years old. Treatment focuses on preventing further problems and sustaining the disease.
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Parkinson's disease is a neurological issue with developing layers of multifaceted nature. It has long been portrayed by the classical motor features of Parkinsonism connected with Lewy bodies and loss of dopaminergic neurons in the substantia nigra. However, symptomatology of Parkinson's disease is presently perceived as heterogeneous, with clinically significant non-motor features. Correspondingly, its pathology includes broad regions of the sensory system, different neurotransmitters, and protein totals other than just Lewy bodies. The reason for Parkinson's disease stays obscure, yet danger of building up Parkinson's disease is no more seen as fundamentally because of environmental factors. Rather, Parkinson's disease appears to come about because of a complicated interaction of hereditary and environmental factors influencing various major cell forms. The unpredictability of Parkinson's disease is accompanied by clinical difficulties, including a failure to make a conclusive determination at the most punctual phase of the sickness and troubles in the management of indications at later stages.
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