Following a stroke, balance disturbances often persist despite full recovery of the paretic side. The aims were to determine how long postural instability could be detected after stroke and the differences in post-stroke patients under and above 65 years of age. Static and dynamic posturography (passing weights from hand to hand around the body) measurements were performed on 29 patients with stroke after 3 ± 2.4 years (≤65 years) and 4.7 ± 3.3 years. (> 65 years) compared with 38 controls. Only the pathway and the velocity assessed by dynamic posturography were significantly higher (p < 0.05) in the younger group of patients compared with the controls. The older group of patients had significantly elevated parameters measured by both static (p < 0.01) and dynamic posturography (p < 0.05). we conclude, using a sensitive and reproducible method to assess both static and dynamic adjustments to maintain balance, that postural instability is significantly greater in post-stroke patients than control subjects. This difference is demonstrable up to 4 years after stroke, despite full recovery of the affected side.
Transcranial magnetic stimulation (rTMS) may influence the progression of PD compared with levodopa. The long term mind modification effect of repeated rTMS and tDCS is not known, nor are the predictors for the effect of NBS. We hypothesized that the regularly repeated rTMS would decrease the development of PD. Later, the treatment protocol was completed with transcranial direct current stimulation (tDCS), supposing that there is an add-on effect. NBS may differently influence motor and mental aspects of the disease. Thirty patients with PD were followed for 3.5 years in an open study. They were stimulated with 1 Hz rTMS every half year for 1.5 years. After that the tDCS was add to the stimulation over both sides of the cerebellum for the next 2 years. UPDRS, Trail Making Test and dual tests were used. The linear regression lines of score systems and percentage of yearly increment were counted, analyzed by ANOVA. The yearly progression rate for UPDRS total was 2% for 3.5 years, 0.6% ≤65 years, 3.6% >65 years. The increment was around zero during the rTMS + tDCS stimulations in patients ≤65 years. The slope of the equation showed the same tendency. The individual sensitivity to the NBS was high. tTMS and tDCS >65 yrs improved pathological executive function (p < 0.0001). The motor ability in PD was maintained at the same level in patients ≤65 years with NBS for the 3.5 years in contrast to patients >65 years. The cognitive function of patients >65 yrs was favorable influenced by rTMS and tDCS. Age is the main predictor of the effect of NBS. rTMS and tDCS can slow the progression of PD without any side effects but in an age-dependent way.
The early stage of Parkinson's disease (PD) (Hoehn-Yahr (HY) I-II stages) is characterized by a negative pull test, which clinically excludes postural instability. Previous studies with dynamic posturography detected balance disturbances even at the onset of the disease but the age dependency or prediction of dyskinesia with dynamic posturography are not known. We hypothesized that the postural instability evoked by dynamic posturography was part of the early stage of PD. Furthermore, we studied how we can provoke dyskinesia. Postural instability with static and dynamic posturography (passing balls with different weights around the body) was studied in 45 patients with PD in their HY I, II stages. They were compared with 35 age-matched healthy controls. Eighteen patients with dyskinesia were involved in the study. Fourteen patients were followed for two years. The pathway and velocity of the movement assessed by static and the dynamic posturography were significantly higher in the group >65 years than that of age-matched healthy controls, while the group ≤65 years showed a significant increment only in the antero-posterior sway during dynamic posturography. The imbalance of patients with dyskinesia was significantly (p < 0.05) provoked by dynamic posturography compared to patients with PD without dyskinesia. The results were independent of age. Postural instability is part of the early symptoms of PD. Non-dopaminergic pathways may be involved in the early stage of PD.
Neurodevelopmental disorders (NDDs) represent a heterogeneous group of diseases with a variety of clinical presentations related to different genetic, epigenetic, and environmental etiologies. Numerous pathogenic variants have been identified by comprehensive genetic approaches such as next-generation sequencing and chromosomal microarray analyses. This study included eleven pediatric patients with NDDs who were referred to our Molecular Medicine (MM) unit for further diagnostic workup. Whole exome sequencing (WES) was performed, and data were analyzed as part of a contracted service with the National Genomic Center and iBioScience LTD. Likely pathogenic single nucleotide variants in genes DDX3X c.869C>A, p.S290* and CNOT1 c.920delG, p.G307Afs*32 in two patients, and pathogenic copy number variants in the 16p11.2 (16:29,690,418-30,200,285)x3 and 16p12.1-p11.2 (16:27,078,317-29,001,333)x3 regions in a third patient with NDDs were identified. In a fourth patient, the c.6839A>G, p.Gln2280Arg variant of uncertain significance was found in the NIPBL gene. Altogether, our study has revealed four novel variants in genes previously linked to NDDs. Identification of genetic causes of NDDs not only promotes establishing a more precise diagnosis and improves our understanding of disease pathogenesis but may also provide better means for developing preventive measures for the recurrence of this serious condition.
Diagnostic transcranial magnetic stimulation (TMS) is a valuable neurophysiological technique. The use of TMS has fundamentally changed the therapy and diagnosis of nervous diseases, introducing the possibility of direct assessment of conduction along the motor pathway in the central region, neuroplasticity, the ratio of central inhibition and excitation, and the effect on neuroplasticity and neurogenesis. The technique is safe, has a low cost and there is no need to purchase expensive consumables, it is applicable for a wide range of diseases in both adult and pediatric practice. The issues of the TMS use in CVA, depression, cerebral palsy and neurodegenerative diseases (amyotrophic lateral sclerosis, parkinsonism) have been studied to the greatest extent. When carrying out TMS in children, it should be borne in mind that signs of incomplete myelination of the motor pathways, which are normally observed, may look like pathological changes (demyelination or axonal disorders). The basic principles of TMS in both adults and children have been established and known, and the age norms have been determined, which makes it possible to widely implement this technique in applied neurophysiological practice. In the rehabilitation process, TMS can be used as a tool for personalizing and monitoring the effectiveness of rehabilitation treatment.
Simultaneously performed cognitive and motor tasks after stroke interfered with each other. Considering the competing deficits of cognition and motor paresis we aim to assess overall functional impairments of patients after stroke injury. A range of dual-task (DT) assessments were made on 63 post-stroke patients (PS) and 49 healthy age-matched controls. Patients with paresis (P) and without paresis (NP) were compared with controls before and after DT training. Difference between the NP patients and controls confirmed the cognitive decline, while compared to the NP patients the motor damage was strengthened in P patients. Older cohort performed worse. According to the ArtAnova analysis, age was more important in DT performance than paresis. Short-term training modified the test results, especially in P patients. Paresis and higher age significantly worsen outcomes of the cognitive-dual task tests. Age-dependent results may reflect cognitive decline, especially in NP patients. Consequently, dual-task test results may represent global cognitive deterioration after stroke. Short-term dual task training improves dual task performances especially in the P groups. Trial registration https://www.isrctn.com/ISRCTN12362945 14/02/2023.