NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY

Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder. Therefore this study is addressed to provide the data about neurological involvement of late-adult premutation carriers of FXS. Objectives: This research is to know neurological involvement of late-adult premutation carriers of FXS. Subjects and Methods: This was a descriptive study following cytogenetic, Polymerase Chain Reaction (PCR), and neurological examinations on premutation carriers of FXS. Cytogenetic and PCR results were secondary data from Central for biomedical research (CEBIOR) laboratory of Faculty of Medicine Diponegoro University during September 2009 – March 2010. Simple neurological examination techniques were done to observe neurological involment among male premutation carriers. Results: There were four males carrying premutation allele over the age of 50. Cytogenetic analysis revealed two subjects expressed fragile site. The other two subjects expressed no fragile site. PCR analysis revealed expanded allele from all subjects. Subject III.6 showed intention tremor and gait ataxia, which are two mayor clinical criterions of FXTAS. Subject III.8 showed gait ataxia which is a mayor criterion of FXTAS. Subject III.9 showed intention tremor and gait ataxia, which are two mayor criterions of FXTAS. And Subject III.10 showed gait ataxia which is a mayor criterion of FXTAS. Conclusion: Some cerebellar manifestations such as intention tremor, limb ataxia, gait ataxia, dysdiadochokinesia, and titubation have been identified in premutation carriers of FXS. Southern Blot is needed to reveal subjects’s molecular status more accurate. Simple techniques to observe mayor and minor clinical criteria in this study had been proved can be used in the future. Radiological imaging is needed to address major and minor radiological criteria of FXTAS is still needed as one of an objectives measurement. Keywords : Fragile X-associated Tremor Ataxia Syndrome, intention tremor, gait ataxia, cerebellar manifestation

Identification and Retraining of Sensorimotor Deficits to Reduce Intention Tremor in Multiple Sclerosis

Multiple sclerosis (MS) affects approximately 1 in 1000 Americans and is a significant cause of disability in the United States. One significant contributor to disability in MS is intention tremor, which manifests as an oscillation about the endpoint of a goal-directed movement. A major challenge of treating intention tremor is that the underlying causes of tremor in MS are unknown. In this study, we describe a systems-level computational model and an experimental technique that parameterizes subject-specific deficits in sensory feedback control during goal-directed movements. We used this approach to characterize sensorimotor control and examine how sensory and motor processes are differentially impacted by age and MS. The specific aims of this study were to: 1) characterize age-related changes in sensorimotor control during goal-directed movements; 2) characterize deficits in sensorimotor control in individuals with multiple sclerosis; and 3) determine whether sensorimotor control deficits can be modified and intention tremor reduced using robot-assisted therapy. We show that age-related changes in movement control can be ascribed to increases in sensory noise, leading to slower and less accurate movements. In persons with MS, changes in movement control associated with intention tremor can be attributed to increases in visual response delay that are unaccounted for by predictive neuromotor control mechanisms. Finally, we show that training of goal-directed movements using carefully selected feedback delays can enable subjects to adapt to their increased visual delay, thereby reducing system instability and tremor. The results demonstrate that systems identification techniques provide an informative framework for investigating how neuromotor disease affects motor control and for developing individually targeted rehabilitation strategies to reduce motor disability

A Case Report of Coronavirus Disease 2019 Presenting with Tremors and Gait Disturbance

Introduction: Neurologic symptoms present as significant complications of coronavirus disease 2019 (COVID-19) infection. This report describes a novel manifestation of tremors triggered by severe acute respiratory syndrome coronavirus 2 infection.Case Presentation: We describe a case of a 46-year-old man with COVID-19 infection complicated by a bilateral intention tremor and wide-based gait. Although neurological manifestations have been reported related to COVID-19, tremulousness has not yet been described.Conclusion: Considering the evolving diversity of neurologic manifestations in this infection, emergency physicians should be vigilant of possible COVID-19 infection in patients presenting with unexplained neurologic symptoms

Intention Tremor and Deficits of Sensory Feedback Control in Multiple Sclerosis: a Pilot Study

Background Intention tremor and dysmetria are leading causes of upper extremity disability in Multiple Sclerosis (MS). The development of effective therapies to reduce tremor and dysmetria is hampered by insufficient understanding of how the distributed, multi-focal lesions associated with MS impact sensorimotor control in the brain. Here we describe a systems-level approach to characterizing sensorimotor control and use this approach to examine how sensory and motor processes are differentially impacted by MS. Methods Eight subjects with MS and eight age- and gender-matched healthy control subjects performed visually-guided flexion/extension tasks about the elbow to characterize a sensory feedback control model that includes three sensory feedback pathways (one for vision, another for proprioception and a third providing an internal prediction of the sensory consequences of action). The model allows us to characterize impairments in sensory feedback control that contributed to each MS subject’s tremor. Results Models derived from MS subject performance differed from those obtained for control subjects in two ways. First, subjects with MS exhibited markedly increased visual feedback delays, which were uncompensated by internal adaptive mechanisms; stabilization performance in individuals with the longest delays differed most from control subject performance. Second, subjects with MS exhibited misestimates of arm dynamics in a way that was correlated with tremor power. Subject-specific models accurately predicted kinematic performance in a reach and hold task for neurologically-intact control subjects while simulated performance of MS patients had shorter movement intervals and larger endpoint errors than actual subject responses. This difference between simulated and actual performance is consistent with a strategic compensatory trade-off of movement speed for endpoint accuracy. Conclusions Our results suggest that tremor and dysmetria may be caused by limitations in the brain’s ability to adapt sensory feedback mechanisms to compensate for increases in visual information processing time, as well as by errors in compensatory adaptations of internal estimates of arm dynamics

Objective identification of upper limb tremor in multiple sclerosis using a wrist-worn motion sensor: establishing validity and reliability

Introduction Over 25% of people with multiple sclerosis experience tremor, which may impact on activities of daily living and quality of life. Yet there is no method to objectively measure tremor and effectiveness of interventions on tremor. This study aimed to test validity and reliability of a new objective measurement for upper limb tremor in people with multiple sclerosis. Method Twelve participants with multiple sclerosis who self-reported tremor were observed performing standardised tasks. Validity and reliability of a new method to detect tremor from wrist movement was established against occupational therapist observation of tremor (FAHN). Concurrent validity of severity (displacement) of tremor was assessed. Responsiveness to change in tremor characteristics was explored in a sub-set of participants using weighted wrist-cuffs. Results The new method correctly predicted 98.2% of tremor cases identified by the occupational therapist, with high sensitivity (0.988) and specificity (0.976). Calculated displacement of tremor correlated with FAHN tremor severity scores moderately (rs = .452, p = .004). The new measure was responsive to changes in tremor characteristics due to change in weight of wrist-cuffs. Conclusion The new method of characterising tremor in those with multiple sclerosis demonstrated excellent validity and reliability in relation to tremor identified by an occupational therapist, and could provide valuable objective insight into the efficacy of interventions. </jats:sec

What can and what cannot be adjusted in the movement patterns of cerebellar patients?

This commentary reviews the case of a patient who could alter the coordination of her prehensile movements when removal of visual feedback reduced her kinetic tremor, but could not coordinate her hand aperture with her hand transport within a single movement. This suggests a dissociation between different subtypes of cerebellar context-response linkage, rather than a single, general association function

Association between venous anomaly of the cerebellum and tremor

Tremor is an involuntary movement of a body part that often occurs due to damage to the extrapyramidal system. Action-intention tremor usually occurs in ipsilateral lesions of the cerebellum. Such lesions can be caused by changes in venous drainage created by venous anomalies

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Additional disorders can co-occur with FXTAS including Alzheimer's disease (AD). Here we discuss a case report of a male with 67 CGG repeats in FMR1 who had mild late-onset FXTAS symptoms followed by neurocognitive disorder symptoms consistent with AD. The patient has developed tremor and ataxia that are the two characteristic symptoms of FXTAS. In addition, he shows rapid cognitive decline, brain atrophy most substantial in the medial temporal lobe, and decreased metabolism in the brain regions that are the characteristic findings of AD. The purpose of this study is to describe a patient profile with both diseases and review the details of an overlap between these two diseases