Huntington's disease (HD) is an autosomal dominant progressive brain disorder, caused by a pathological expansion of a CAG repeat that encodes the huntingtin gene. This genetic neurodegenerative rare ...disease is characterized by cognitive, motor, and neuropsychiatric manifestations. The aim of the treatment is symptomatic and addresses the hyperkinetic disorders (chorea, dystonia, myoclonus, tics, etc.) and the behavioural and cognitive disturbances (depression, anxiety, psychosis, etc.) associated with the disease. HD is still a complex condition in need of innovative and efficient treatment. The long-term goal of pharmacogenetic studies is to use genotype data to predict the effective treatment response to a specific drug and, in turn, prevent potential undesirable effects of its administration. Chorea, depression, and psychotic symptoms have a substantial impact on HD patients' quality of life and could be better controlled with the help of pharmacogenetic knowledge. We aimed to carry out a review of the available publications and evidence related to the pharmacogenetics of HD, with the objective of compiling all information that may be useful in optimizing drug administration. The impact of pharmacogenetic information on the response to antidepressants and antipsychotics is well documented in psychiatric patients, but this approach has not been investigated in HD patients. Future research should address several issues to ensure that pharmacogenetic clinical use is appropriately supported, feasible, and applicable.
Abstract
Background/Objectives
Several studies have raised the possibility of an association between alcohol consumption and the risk of developing restless legs syndrome (RLS). Moreover, an ...important percentage of patients under alcohol detoxification therapy develop RLS symptoms that fulfil the criteria for idiopathic RLS during alcohol withdrawal. We have aimed to establish the possible association between two common single nucleotide polymorphisms (SNPs) in the alcohol-dehydrogenase 1B (ADH1B) gene and the risk for RLS.
Methods
We studied, using specific TaqMan assays, the genotype and allelic variant frequencies of ADH1B rs1229984 and ADH1B rs6413413 SNPs in 205 RLS patients and 505 gender-matched healthy controls.
Results
The sum of the frequencies of rs1229984CT and rs1229984TT genotypes, as well as the frequency of the rs1229984T allelic variant, was significantly higher in RLS patients than in controls, both in the whole group and in females. The frequencies of genotypes and allelic variants of the rs6413413 SNP were similar between the two groups. RLS patients with the rs1229984CT genotype were younger, and those with the rs122984TT genotype older, at onset of RLS symptoms than those with the rs1229984CC genotype. None of the studied SNPs were related either with positivity of family history for RLS or with RLS severity.
Conclusions
These results suggest an association between rs1229984 SNP and the risk for RLS.
Parkinson's disease (PD) is a progressive neurodegenerative disorder whose prevalence has steadily been rising over the years. Specialist neurologists across the world assess and diagnose patients ...with PD, although the diagnostic process is time-consuming and various symptoms take years to appear, which means that the diagnosis is prone to human error. The partial automatization of PD assessment and diagnosis through computational processes has therefore been considered for some time. One well-known tool for PD assessment is finger tapping (FT), which can now be assessed through computer vision (CV). Artificial intelligence and related advances over recent decades, more specifically in the area of CV, have made it possible to develop computer systems that can help specialists assess and diagnose PD. The aim of this study is to review some advances related to CV techniques and FT so as to offer insight into future research lines that technological advances are now opening up.
INTRODUCTIONTic disorders are neurodevelopmental disorders of childhood associated with psychiatric comorbidity and academic problems. Estimating the prevalence and understanding the epidemiology of ...tic disorders is more complex than was once thought. Until fairly recently, tic disorders were thought to be rare, but today tics are believed to be the most common movement disorder, with 0.2-46.3% of schoolchildren experiencing tics during their lifetime. Tentative explanations for differing prevalence estimates include the multidimensional nature of tics with a varied and heterogeneous presentation, and the use of different epidemiological methods and study designs.METHODSLiterature review and analysis of methodological issues pertinent to epidemiological studies of tic disorders.RESULTSEpidemiological studies of tic disorders were reviewed, and the main elements of epidemiological studies, including sample selection, case ascertainment strategy, definition of tic disorders, and the degree of coverage of the eligible population (i.e., the response rate) were examined.DISCUSSIONIn order to improve the quality of epidemiological studies of tic disorders, a number of recommendations were made, including but not limited to a review of the diagnostic criteria for tic disorders, and inclusion of new tic disorder categories for those with tics of secondary etiology.
A prospective, observational multicenter study was carried out assessing neuropsychiatric symptoms in a sample of 117 subjects in order to validate the Spanish version of the Problem Behaviors ...Assessment-Short (PBA-s). The psychometric properties of this version were analyzed. Inter- and intra-rater reliability were good: the mean weighted Cohen’s kappa was 0.90 for severity scores and 0.93 for frequency scores. Four factors accounting for 56% of the total variance were identified after an exploratory factor analysis: apathy, irritability, depression, and perseveration. The PBA-s correlates strongly with the Neuropsychiatric Inventory, demonstrating its accuracy for assessing neuropsychiatric symptoms in patients with Huntington’s disease.
BackgroundThere is a growing interest in nonpharmacological approaches for essential tremor (ET), including tremor cancelation devices. However, the true efficacy of such devices in ET remains ...unclear. MethodsA systematic literature review was conducted using standardized criteria regarding efficacy and comfortability. Devices focused on design or experimental testing in which tremor was simulated in a robot were excluded. ResultsOut of 324 articles initially identified, 12 articles were included. Orthoses using biomechanical loading and neuromodulation with electrical stimulation, and external tremor cancelation devices, were the main interventions used to suppress tremor. All devices were designed to control tremor of the upper limbs at different anatomical locations. Overall, an average tremor attenuation of 50-98% was reported (level of evidence III). Interference with voluntary movements and portability was described as the main drawback. DiscussionIn conclusion, this review highlights the growing interest in emerging tremor control devices and the importance of assessing comfort without affecting voluntary movements. However, the level of evidence regarding the efficacy of these tremor control devices remains low. An integrated multidisciplinary combination approach of engineering, robotics, physiology, physiotherapy, and clinical assessment is needed to improve the quality of non-pharmacological interventions for ET.
A recent meta-analysis suggests an association between the rs11558538 single nucleotide polymorphism in the
histamine
-
N
-
methyl
-
transferase
(
HNMT)
gene and the risk for Parkinson’s disease. ...Based on the possible relationship between PD and restless legs syndrome (RLS), we tried to establish whether rs11558538 SNP is associated with the risk for RLS. We studied the genotype and allelic variant frequencies of
HNMT
rs11558538 SNP 205 RLS patients and 410 healthy controls using a TaqMan assay. The frequencies of the
HNMT
rs11558538 genotypes allelic variants were similar between RLS patients and controls, and were not influenced by gender, family history of RLS, or RLS severity. RLS patients carrying the genotype rs11558538TT had an earlier age at onset, but this finding was based on three subjects only. These results suggest a lack of major association between
HNMT
rs11558538 SNP and the risk for RLS.
The consolidation of telerehabilitation for the treatment of many diseases over the last decades is a consequence of its cost-effective results and its ability to offer access to rehabilitation in ...remote areas. Telerehabilitation operates over a distance, so vulnerable patients are never exposed to unnecessary risks. Despite its low cost, the need for a professional to assess therapeutic exercises and proper corporal movements online should also be mentioned. The focus of this paper is on a telerehabilitation system for patients suffering from Parkinson's disease in remote villages and other less accessible locations. A full-stack is presented using big data frameworks that facilitate communication between the patient and the occupational therapist, the recording of each session, and real-time skeleton identification using artificial intelligence techniques. Big data technologies are used to process the numerous videos that are generated during the course of treating simultaneous patients. Moreover, the skeleton of each patient can be estimated using deep neural networks for automated evaluation of corporal exercises, which is of immense help to the therapists in charge of the treatment programs.
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