-
Advances in Clinical and Experimental... Jul 2017The aim of the study is to present a strategy of rehabilitation in multiple sclerosis on the basis of the latest developments in the field of physiotherapy. The... (Review)
Review
The aim of the study is to present a strategy of rehabilitation in multiple sclerosis on the basis of the latest developments in the field of physiotherapy. The publications on the problem discuss a wide range of methods of physiotherapy that can be used in order to reduce the degree of disability and alleviate the symptoms associated with the disease. The complexity of the disease, the difficulty in determining the appropriate treatment and a wide range of symptoms require a comprehensive approach to the patient, which would include both pharmacology and neurorehabilitation. Rehabilitation, which includes psychotherapy and symptomatic therapy, is regarded nowadays as the best form of treatment for multiple sclerosis. An indepth diagnostic assessment of functional status and prognosis should be carried out before the start of the rehabilitation process. The prognosis should take into account the mental state, the neurological status and the awareness of the patient. The kinesiotherapy program in multiple sclerosis is based on a gradation of physiotherapy which assumes a gradual transition from basic movements to more complex ones till global functions are obtained. The most appropriate form of treatment is functional rehabilitation combined with physical procedures. Recent reports indicate the need for aerobic training to be included in the rehabilitation program. The introduction of physical activities, regardless of the severity of the disease, will reduce the negative effects of akinesia, and thus increase the functional capabilities of all body systems.
Topics: Exercise; Humans; Multiple Sclerosis; Physical Therapy Modalities; Prognosis
PubMed: 28691412
DOI: 10.17219/acem/62329 -
Journal of Parkinson's Disease 2020Pain is a very frequent symptom with influence on the quality of life in Parkinson's disease (PD), but is still underdiagnosed and commonly treated only... (Review)
Review
Pain is a very frequent symptom with influence on the quality of life in Parkinson's disease (PD), but is still underdiagnosed and commonly treated only unsystematically. Pain etiology and pain character are often complex and multi-causal, and data regarding treatment recommendations are limited. Pain can be primarily related to PD but frequently it is associated with secondary diseases, such as arthrosis of the spine or joints. However, even basically PD-unrelated pain often is amplified by motor- or non-motor PD symptoms, such as akinesia or depression. Beyond an optimization of anti-parkinsonian treatment, additional pain treatment strategies are usually needed to properly address pain in PD. A careful pain history and diagnostic work-up is essential to rate the underlying pain pathophysiology and to develop a targeted therapeutic concept. This review gives an overview on how pain is treated in PD patients and how patients assess the effectiveness of these therapies; here, the manuscript focuses on pathophysiology-driven suggestions for a multimodal pain management in clinical practice.
Topics: Analgesics; Antiparkinson Agents; Humans; Pain; Pain Management; Pain Measurement; Parkinson Disease; Quality of Life
PubMed: 32568113
DOI: 10.3233/JPD-202069 -
Journal of Medical Genetics Sep 2021Fetal akinesia and arthrogryposis are clinically and genetically heterogeneous and have traditionally been refractive to genetic diagnosis. The widespread availability...
BACKGROUND
Fetal akinesia and arthrogryposis are clinically and genetically heterogeneous and have traditionally been refractive to genetic diagnosis. The widespread availability of affordable genome-wide sequencing has facilitated accurate genetic diagnosis and gene discovery in these conditions.
METHODS
We performed next generation sequencing (NGS) in 190 probands with a diagnosis of arthrogryposis multiplex congenita, distal arthrogryposis, fetal akinesia deformation sequence or multiple pterygium syndrome. This sequencing was a combination of bespoke neurogenetic disease gene panels and whole exome sequencing. Only class 4 and 5 variants were reported, except for two cases where the identified variants of unknown significance (VUS) are most likely to be causative for the observed phenotype. Co-segregation studies and confirmation of variants identified by NGS were performed where possible. Functional genomics was performed as required.
RESULTS
Of the 190 probands, 81 received an accurate genetic diagnosis. All except two of these cases harboured class 4 and/or 5 variants based on the American College of Medical Genetics and Genomics guidelines. We identified phenotypic expansions associated with and . We describe a total of 50 novel variants, including a novel missense variant in the recently identified gene for arthrogryposis with brain malformations.
CONCLUSIONS
Comprehensive gene panels give a diagnosis for a substantial proportion (42%) of fetal akinesia and arthrogryposis cases, even in an unselected cohort. Recently identified genes account for a relatively large proportion, 32%, of the diagnoses. Diagnostic-research collaboration was critical to the diagnosis and variant interpretation in many cases, facilitated genotype-phenotype expansions and reclassified VUS through functional genomics.
Topics: Alleles; Amino Acid Sequence; Amino Acid Substitution; Arthrogryposis; Chromosome Mapping; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genomics; Genotype; High-Throughput Nucleotide Sequencing; Humans; Magnetic Resonance Imaging; Male; Mutation; Pedigree; Phenotype; Sequence Analysis, DNA; Exome Sequencing
PubMed: 33060286
DOI: 10.1136/jmedgenet-2020-106901 -
Cells Dec 2020Parkinson's disease (PD) is the second most common neurodegenerative disease. PD patients exhibit motor symptoms such as akinesia/bradykinesia, tremor, rigidity, and... (Review)
Review
Parkinson's disease (PD) is the second most common neurodegenerative disease. PD patients exhibit motor symptoms such as akinesia/bradykinesia, tremor, rigidity, and postural instability due to a loss of nigrostriatal dopaminergic neurons. Although the pathogenesis in sporadic PD remains unknown, there is a consensus on the involvement of non-neuronal cells in the progression of PD pathology. Astrocytes are the most numerous glial cells in the central nervous system. Normally, astrocytes protect neurons by releasing neurotrophic factors, producing antioxidants, and disposing of neuronal waste products. However, in pathological situations, astrocytes are known to produce inflammatory cytokines. In addition, various studies have reported that astrocyte dysfunction also leads to neurodegeneration in PD. In this article, we summarize the interaction of astrocytes and dopaminergic neurons, review the pathogenic role of astrocytes in PD, and discuss therapeutic strategies for the prevention of dopaminergic neurodegeneration. This review highlights neuron-astrocyte interaction as a target for the development of disease-modifying drugs for PD in the future.
Topics: Animals; Antioxidants; Astrocytes; Disease Progression; Dopamine; Dopaminergic Neurons; Humans; Inflammation; Mitochondria; Nerve Degeneration; Neuroglia; Neurons; Neuroprotection; Oxidative Stress; Parkinson Disease; Signal Transduction; alpha-Synuclein
PubMed: 33297340
DOI: 10.3390/cells9122623 -
Frontiers in Neurology 2022Tauopathies are both clinical and pathological heterogeneous disorders characterized by neuronal and/or glial accumulation of misfolded tau protein. It is now well... (Review)
Review
Tauopathies are both clinical and pathological heterogeneous disorders characterized by neuronal and/or glial accumulation of misfolded tau protein. It is now well understood that every pathologic tauopathy may present with various clinical phenotypes based on the primary site of involvement and the spread and distribution of the pathology in the nervous system making clinicopathological correlation more and more challenging. The clinical spectrum of tauopathies includes syndromes with a strong association with an underlying primary tauopathy, including Richardson syndrome (RS), corticobasal syndrome (CBS), non-fluent agrammatic primary progressive aphasia (nfaPPA)/apraxia of speech, pure akinesia with gait freezing (PAGF), and behavioral variant frontotemporal dementia (bvFTD), or weak association with an underlying primary tauopathy, including Parkinsonian syndrome, late-onset cerebellar ataxia, primary lateral sclerosis, semantic variant PPA (svPPA), and amnestic syndrome. Here, we discuss clinical syndromes associated with various primary tauopathies and their distinguishing clinical features and new biomarkers becoming available to improve diagnosis. Although the typical phenotypic clinical presentations lead us to suspect specific underlying pathologies, it is still challenging to differentiate pathology accurately based on clinical findings due to large phenotypic overlaps. Larger pathology-confirmed studies to validate the use of different biomarkers and prospective longitudinal cohorts evaluating detailed clinical, biofluid, and imaging protocols in subjects presenting with heterogenous phenotypes reflecting a variety of suspected underlying pathologies are fundamental for a better understanding of the clinicopathological correlations.
PubMed: 35911892
DOI: 10.3389/fneur.2022.944806 -
La Clinica Terapeutica 2018Parkinson's disease (PD) is a multifactorial disorder of the nervous system in which there is a progressive loss of dopaminergic neurons. There is a disturbance in the... (Review)
Review
Parkinson's disease (PD) is a multifactorial disorder of the nervous system in which there is a progressive loss of dopaminergic neurons. There is a disturbance in the movement in PD and these include resting tremors, rigidity, bradykinesia or akinesia, disturbance, posture and freezing (motor block). The substantia nigra and other parts of the brain are commonly affected. The disorder could be related to oxidative stress and there is an important role of reactive oxygen species (ROS). A number of herbal products contain active components which are known to possess antioxidant action. Hence, the potential role of herbal products in treating PD cannot be undermined. In the present narrative review, the main aim is to discuss the pathogenesis of PD, define the role of different potential herbal extracts on its pathogenesis which may form the basis of treatment. We also discuss in detail the active chemical compounds present each herb which are effective in the treatment of PD. These herbs include Baicalei, Erythrina velutin, Resveratrol, Peganum Harmal, Curcuma longa (Zingiberaceae), Carthamus tinctorius L. (Safflower), Pueraria lobate, Juglandis Semen (Walnut), Tianma Gouteng Yin (TGY), Lycium barbarum L fruit, Mucuna pruriens (Velvet bean), Chunghyuldan (CHD), Paeoniae Alba Radix. The present review may be beneficial for designing future drugs for effective treatment of PD.
Topics: Humans; Parkinson Disease; Phytotherapy; Plants, Medicinal
PubMed: 29446788
DOI: 10.7417/T.2018.2050