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This study aimed to identify quantitative biomarkers of motor function for cerebellar ataxia by evaluating gait and postural control using an RGB-depth camera-based motion analysis system. In 28 patients with degenerative cerebellar ataxia and 33 age- and sex-matched healthy controls, motor tasks (short-distance walk, closed feet stance, and stepping in place) were selected from a previously reported protocol, and scanned using Kinect V2 and customized software. The Clinical Assessment Scale for the Assessment and Rating of Ataxia (SARA) was also evaluated. Compared with the normal control group, the cerebellar ataxia group had slower gait speed and shorter step lengths, increased step width, and mediolateral trunk sway in the walk test (all P < 0.001). Lateral sway increased in the stance test in the ataxia group (P < 0.001). When stepping in place, the ataxia group showed higher arrhythmicity of stepping and increased stance time (P < 0.001). In the correlation analyses, the ataxia group showed a positive correlation between the total SARA score and arrhythmicity of stepping in place (r = 0.587, P = 0.001). SARA total score (r = 0.561, P = 0.002) and gait subscore (ρ = 0.556, P = 0.002) correlated with mediolateral truncal sway during walking. These results suggest that the RGB-depth camera-based motion analyses on mediolateral truncal sway during walking and arrhythmicity of stepping in place are useful digital motor biomarkers for the assessment of cerebellar ataxia, and could be utilized in future clinical trials.
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The internist Hermann Nothnagel (1841-1905) took a special interest in the cerebellum. In an early experimental study on rabbits conducted in 1876, he demonstrated the involvement of the vermis in the pathophysiology of motor ataxia. Between 1879 and 1889, he reported four cases of tectal tumors that clinically manifested with bilateral ophthalmoplegia and unilateral gait ataxia, culminating in the Cerebellar Classic highlighted here. Nothnagel attributed this clinical syndrome to lesions of the colliculi ("quadrigeminal bodies") and compression of the nuclei of the third cranial nerves, but also left open the possibility of the involvement of neighboring structures, such as the cerebellar vermis. Today, the ataxic component of Nothnagel syndrome is explained by a dorsal midbrain abnormality of either neoplastic or vascular origin, involving the superior cerebellar peduncles, besides the oculomotor nerves.
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Ataxia Cerebelar , Oftalmoplegia , Masculino , Animais , Coelhos , Ataxia , Mesencéfalo , CerebeloRESUMO
Sensory ataxia due to posterior cord syndrome is a relevant, disabling condition in nontraumatic spinal cord dysfunction. Ataxic gait is a common symptom of sensory ataxia that restricts activities of daily living. A 70-year-old woman with severe sensory disturbance was diagnosed with intradural extramedullary spinal cord tumors found in the thoracic spine region (T8). Surgical management of the tumors was performed. The patient received gait training 20 days after surgery (postoperative acute phase) using a hybrid assistive limb (HAL). HAL is a wearable exoskeleton cyborg that provides real-time assistance to an individual for walking and limb movements through actuators mounted on the bilateral hip and knee joints. Walking ability was assessed using the 10 m walking test, which included evaluating walking speed, step length, and cadence in every session. To evaluate the immediate effects of HAL training, walking speed and step length were measured before and after the training in each session. During the 10 m walking test, gait kinematics and lower muscle activity were recorded using a motion capture system and wireless surface electromyography before the first session and after completion of all HAL sessions. After the HAL training sessions, improvement in the patient's gait performance was observed in the gait joint angles and muscle activity of the lower limb. After 10 training sessions, we observed the following changes from baseline: walking speed (from 0.16 m/s to 0.3 m/s), step length (from 0.19 m to 0.37 m), and cadence (from 50.9 steps/min to 49.1 steps/min). The average standard deviations of the knee (from right, 7.31; left, 6.75; to right, 2.93; p < 0.01, left, 2.63; p < 0.01) and ankle joints (from right, 6.98; left, 5.40; to right, 2.39; p < 0.01, left, 2.18; p < 0.01) were significantly decreased. Additionally, walking speed and step length improved immediately after completing all the HAL training sessions. This suggests that HAL gait training might be a suitable physical rehabilitation program for patients with sensory ataxia causing dysfunctional movement of the lower limb.
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Compressão da Medula Espinal , Neoplasias da Medula Espinal , Neoplasias da Coluna Vertebral , Feminino , Humanos , Idoso , Marcha Atáxica , Atividades Cotidianas , Marcha/fisiologiaRESUMO
Spinocerebellar ataxias (SCA) constitute of a group of degenerative and progressive disorders that can be identified on a molecular and cellular basis. Along with histological changes, the clinical presentation of SCA differs between subtypes. In addition to basic cerebellar dysfunction symptoms, patients with SCA develop gait ataxia, dysphagia, dysarthria, oculomotor disturbances, pyramidal and extrapyramidal disease signs, rigidity, bradycardia, sensory deficits, and mild cognitive and executive function decline. MRI scans have confirmed reduction in mass of frontal, temporal, and parietal portions of the brain along with the cerebellar peduncles, brainstem, and cranial nerve III. Clinically, these damages manifest as decline in cognition and problems with speech, contemplation, and vision. This review article compares the most prevalent subtypes of SCA based on genetic background, pathogenesis, neurological manifestations, other presenting symptoms, and diagnostic workup. Further goals of research in this field should be directed towards a cure for SCA, which currently does not exist.
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Encéfalo/fisiopatologia , Ataxias Espinocerebelares/genética , Ataxias Espinocerebelares/fisiopatologia , Encéfalo/diagnóstico por imagem , Disfunção Cognitiva/diagnóstico por imagem , Disfunção Cognitiva/genética , Disfunção Cognitiva/fisiopatologia , Humanos , Imageamento por Ressonância Magnética/tendências , Ataxias Espinocerebelares/diagnóstico por imagemRESUMO
OBJECTIVE: Gait disturbances are frequent side effects occurring during chronic thalamic deep brain stimulation (DBS) in patients with essential tremor (ET). Adapting stimulation settings to shorter pulse widths has been shown to reduce side effects of subthalamic DBS. Here, we assess how a reduction of pulse width changes gait performance of affected patients. METHODS: Sensor-based gait assessment was performed to record spatiotemporal gait parameters in 10 healthy subjects (HS) and 7 patients with ET with gait disturbances following thalamic DBS. Patients were tested during standard DBS, after 72 hours of stimulation withdrawal and at least 30 days after adjusting DBS settings to a shorter pulse width of 40 µs (DBS40PW). RESULTS: Patients with ET on standard DBS showed significantly higher variability of several spatiotemporal gait parameters compared with HS. Variability of stride length and range of motion of the shanks significantly decreased OFF DBS as compared with standard DBS. This improvement was maintained over 30 days with DBS40PW while providing effective tremor suppression in six out of seven patients. CONCLUSION: Shorter pulse widths may reduce gait disturbances in patients with ET that are induced by DBS while preserving a level of tremor suppression equal to standard stimulation settings.
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Estimulação Encefálica Profunda/efeitos adversos , Tremor Essencial/terapia , Transtornos Neurológicos da Marcha/etiologia , Idoso , Estudos de Casos e Controles , Estimulação Encefálica Profunda/métodos , Feminino , Marcha/fisiologia , Transtornos Neurológicos da Marcha/diagnóstico , Transtornos Neurológicos da Marcha/prevenção & controle , Humanos , MasculinoRESUMO
The aim of this pilot study is to test the feasibility and effectiveness of a wearable proprioceptive stabilizer that emits focal mechanical vibrations in patients affected by hereditary cerebellar ataxias. Eleven adult patients with a confirmed genetic diagnosis of autosomal dominant spinocerebellar ataxia or Friedreich's ataxia were asked to wear an active device for 3 weeks. Assessments were performed at baseline, after the device use (T1), and 3 weeks after (T2). SARA, 9-HPT, PATA, 6MWT, and spatial and temporal gait parameters, measured with a BTS-G-Walk inertial sensor, were used as study endpoints. As expected, no adverse effects were reported. Statistically significant improvements in SARA, 9HPT dominant hand, PATA test, 6MWT, cadence, length cycle, support right/cycle, support left/cycle, flight right/cycle, flight left/cycle, double support right/cycle, double support left/cycle, single support right/cycle, and single support left/cycle were observed between T0 and T1. All parameters improved at T1 did not show statistically significant differences a T2, with the exception of length of cycle. This small open-labeled study shows preliminary evidence that focal mechanical vibration exerted by a wearable proprioceptive stabilizer might improve limb and gait ataxia in patients affected by hereditary cerebellar ataxias.
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Retroalimentação Sensorial , Ataxia de Friedreich/reabilitação , Modalidades de Fisioterapia/instrumentação , Ataxias Espinocerebelares/reabilitação , Feminino , Marcha Atáxica/etiologia , Marcha Atáxica/reabilitação , Humanos , Masculino , Projetos Piloto , VibraçãoRESUMO
Fragile X-associated tremor/ataxia syndrome (FXTAS) results from a "premutation" (PM) size CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene. Cerebellar gait ataxia is the primary feature in some FXTAS patients causing progressive disability. However, no studies have quantitatively characterized gait and mobility deficits in FXTAS. We performed quantitative gait and mobility analysis in seven FMR1 PM carriers with FXTAS and ataxia, six PM carriers without FXTAS, and 18 age-matched controls. We studied four independent gait domains, trunk range of motion (ROM), and movement transitions using an instrumented Timed Up and Go (i-TUG). We correlated these outcome measures with FMR1 molecular variables and clinical severity scales. PM carriers with FXTAS were globally impaired in every gait performance domain except trunk ROM compared to controls. These included total i-TUG duration, stride velocity, gait cycle time, cadence, double-limb support and swing phase times, turn duration, step time before turn, and turn-to-sit duration, and increased gait variability on several measures. Carriers without FXTAS did not differ from controls on any parameters, but double-limb support time was close to significance. Balance and disability scales correlated with multiple gait and movement transition parameters, while the FXTAS Rating Scale did not. This is the first study to quantitatively examine gait and movement transitions in FXTAS patients. Gait characteristics were consistent with those from previous cohorts with cerebellar ataxia. Sensitive measures like the i-TUG may help determine efficacy of interventions, characterize disease progression, and provide early markers of disease in FXTAS.
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Ataxia/fisiopatologia , Síndrome do Cromossomo X Frágil/fisiopatologia , Marcha , Tremor/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Ataxia/genética , Fenômenos Biomecânicos , Estudos de Coortes , Avaliação da Deficiência , Feminino , Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/genética , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Postura , Índice de Gravidade de Doença , Tremor/genéticaRESUMO
Background: Multiple system atrophy (MSA) is a disease with diverse symptoms and the commonly used classifications, MSA-P and MSA-C, do not cover all the different symptoms seen in MSA patients. Additionally, these classifications do not provide information about how the disease progresses over time or the expected outcome for patients. Objective: To explore clinical subtypes of MSA with a natural disease course through a data-driven approach to assist in the diagnosis and treatment of MSA. Methods: We followed 122 cases of MSA collected from 3 hospitals for 3 years. Demographic characteristics, age of onset, clinical signs, scale assessment scores, and auxiliary examination were collected. Age at onset; time from onset to assisted ambulation; and UMSARS I, II, and IV, COMPASS-31, ICARS, and UPDRS III scores were selected as clustering elements. K-means, partitioning around medoids, and self-organizing maps were used to analyze the clusters. Results: The results of all three clustering methods supported the classification of three MSA subtypes: The aggressive progression subtype (MSA-AP), characterized by mid-to-late onset, rapid progression and severe clinical symptoms; the typical subtype (MSA-T), characterized by mid-to-late onset, moderate progression and moderate severity of clinical symptoms; and the early-onset slow progression subtype (MSA-ESP), characterized by early-to-mid onset, slow progression and mild clinical symptoms. Conclusions: We divided MSA into three subtypes and summarized the characteristics of each subtype. According to the clustering results, MSA patients were divided into three completely different types according to the severity of symptoms, the speed of disease progression, and the age of onset.
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Progressão da Doença , Atrofia de Múltiplos Sistemas , Humanos , Atrofia de Múltiplos Sistemas/classificação , Atrofia de Múltiplos Sistemas/diagnóstico , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Análise por Conglomerados , Idade de Início , Índice de Gravidade de DoençaRESUMO
Normal pressure hydrocephalus (NPH) is a rare condition characterized by pathologically enlarged ventricles and a normal cerebrospinal fluid (CSF) opening pressure measured by lumbar puncture. NPH typically presents as a triad of cognitive decline, gait disturbance, and urinary incontinence. Rarely, NPH can present with bulbar involvement, particularly with difficulty swallowing. Here, we present a case of NPH in a 75-year-old man who presented with an episode of choking and a recent onset of swallowing difficulties with a three-month history of ataxia and progressive memory loss. His CT scan revealed ventriculomegaly, which was consistent with the clinical presentation of NPH and was further confirmed by a normal opening pressure on the CSF tap. Furthermore, ventriculoperitoneal shunts showed a marked improvement in patients' dysphagia and the classical triad of NPH symptoms. Through this case report, we want to highlight that NPH can present as a difficulty in swallowing.
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Cat scratch disease (CSD) is a zoonotic infection caused by the transmission of gram-negative bacteria Bartonella henselae through a scratch or bite of a feline carrying B. henselae-infected fleas. CSD often presents clinically as a self-limited flu-like infection with painful regional lymphadenopathy appearing one to two weeks following initial transmission. However, a growing body of literature highlights abnormal presentations of Bartonella infections within the pediatric population. In this case report, we describe an atypical presentation of a B. henselae infection in an 11-year-old female with seizures, prolonged encephalopathy, agitation, and truncal instability. With an atypical presentation, a delay in diagnosis can result in potentially permanent organ damage, particularly as traditional empiric antibiotics fail to cover Bartonella infections. As such, proper treatment and complete resolution of symptoms require astute clinical recognition to make the correct diagnosis promptly.
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Low-intensity noisy galvanic vestibular stimulation (nGVS) can improve static and dynamic postural deficits in patients with bilateral vestibular loss (BVL). In this study, we aimed to explore the neurophysiological and neuroanatomical substrates underlying nGVS treatment effects in a rat model of BVL. Regional brain activation patterns and behavioral responses to a repeated 30 min nGVS treatment in comparison to sham stimulation were investigated by serial whole-brain 18F-FDG-PET measurements and quantitative locomotor assessments before and at nine consecutive time points up to 60 days after the chemical bilateral labyrinthectomy (BL). The 18F-FDG-PET revealed a broad nGVS-induced modulation on regional brain activation patterns encompassing biologically plausible brain networks in the brainstem, cerebellum, multisensory cortex, and basal ganglia during the entire observation period post-BL. nGVS broadly reversed brain activity adaptions occurring in the natural course post-BL. The parallel behavioral locomotor assessment demonstrated a beneficial treatment effect of nGVS on sensory-ataxic gait alterations, particularly in the early stage of post-BL recovery. Stimulation-induced locomotor improvements were finally linked to nGVS brain activity responses in the brainstem, hemispheric motor, and limbic networks. In conclusion, combined 18F-FDG-PET and locomotor analysis discloses the potential neurophysiological and neuroanatomical substrates that mediate previously observed therapeutic nGVS effects on postural deficits in patients with BVL.
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Vestibulopatia Bilateral , Vestíbulo do Labirinto , Humanos , Animais , Ratos , Vestibulopatia Bilateral/terapia , Fluordesoxiglucose F18 , Vestíbulo do Labirinto/fisiologia , Equilíbrio Postural/fisiologia , Estimulação Elétrica , Encéfalo/diagnóstico por imagemRESUMO
Subacute combined degeneration (SCD) from vitamin B12 deficiency and spinal stenosis from degenerative changes may present similarly with weakness, sensory disturbances, and ataxia but require different treatments. This case report describes a 74-year-old male with suspected SCD who was discharged to an inpatient rehabilitation facility (IRF), did not improve with B12 supplementation, and later developed signs of myelopathy and diffuse joint pain. He ultimately was found to have severe cervical stenosis and pseudogout that were treated with a laminectomy and colchicine, respectively. Following surgical intervention, he returned to the IRF, where he had considerable functional improvement and was safely discharged home. This report shows the importance of recognizing the two conditions, their overlap, and the contrast between Occam's razor and Hickam's dictum.
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Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare inflammatory neurological disorder characterized by ocular, motor, behavioral, language, and sleep disturbances. It usually affects infants and young children but may affect adults. A 28-year-old male was brought to our emergency ward with complaints of involuntary spontaneous eye movements and jerky movements of limbs with imbalance while walking. He had a history of short febrile illness 10 days prior. His magnetic resonance imaging (MRI) of the brain, cerebrospinal fluid (CSF) analysis, and other routine investigations were normal. The patient was treated with injectable methylprednisolone (1 g) given for five days along with other supportive therapy. A significant reduction in the opsoclonus, myoclonus, and ataxia was seen on a six-month follow-up. OMAS should be identified early to avoid the use of inappropriate medications, and immunotherapy must be provided as early as possible in order to prevent irreversible neurological damage.
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Introduction: This report concerns the case of a 70-year-old man with idiopathic normal pressure hydrocephalus (iNPH). The diagnosis in the current case took more than 2 years. iNPH is characterised by ventriculomegaly with a known triad of symptoms: gait disturbance, cognitive impairments and urinary incontinence. Although this is a difficult diagnosis and other conditions must be ruled out, several points in the process could lead to a correct diagnosis. The aim of the report is to identify several reasons why the diagnosis was delayed for such a long time, as well as lessons for the future. Case: This patient developed several symptoms over time. First, he presented with depressive mood and altered behaviour. He later developed gait difficulties and, finally, urinary incontinence. Multiple consultations and examinations failed to provide an exact explanation for all his symptoms. After 2 years, a new doctor at the hospital started from scratch and recognised the iNPH triad, and the diagnosis was confirmed by the radiologist. Conclusion: The diagnosis of iNPH is difficult, as symptoms may manifest over time. In this case, the delay of diagnosis exceeded estimations. A broader view through interdisciplinary consultation could provide new insights and lead to earlier diagnosis.
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BACKGROUND: Quantitative gait assessment is increasingly applied in fall risk stratification, diagnosis, and disease monitoring of neuro-geriatric gait disorders. Its broad application, however, demands for low-cost and mobile solutions that facilitate high-quality assessment outside laboratory settings. The aim of this study was to present and evaluate the concurrent validity of a mobile and low-cost gait assessment tool (mVEGAS) that combines body-fixed inertial sensors and a smartphone-based video capture for spatiotemporal identification of gait sequences. METHODS: Initially, we examined potential interferences of wearing mVEGAS with walking performance in a cohort of 20 young healthy individuals (31.1 ± 10.1 years; 8 females). Subsequently, we assessed the concurrent validity of mVEGAS as compared to a pressure-sensitive gait carpet (GAITRite) in a cohort of 26 healthy individuals (55.8 ± 14.3 years; 10 females) and 26 patients (55.7 ± 14.0; 14 females) with moderate to severe degrees of cerebellar gait ataxia. All participants were instructed to walk at preferred, slow, and fast walking speed and standard average and variability gait measures including velocity, stride length, stride time, base of support, swing and double support phase were examined for agreement between the two systems by absolute error and intraclass correlation coefficients (ICC). RESULTS: Wearing mVEGAS did only marginally interfere with normal walking behavior. mVEGAS-derived average and variability gait measures exhibited good to excellent concurrent validity in healthy individuals (ICCs ranging between 0.645 and 1.000) and patients with gait ataxia (ICCs ranging between 0.788 and 1.000) SIGNIFICANCE: mVEGAS may facilitate high-quality and long-term gait monitoring in different non-specialized environments such as medical practices, nursing homes or community centers.
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Análise da Marcha , Marcha Atáxica , Idoso , Ataxia/diagnóstico , Feminino , Marcha , Marcha Atáxica/diagnóstico , Humanos , Reprodutibilidade dos Testes , Smartphone , Análise Espaço-Temporal , CaminhadaRESUMO
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a rare disease with an unknown etiology which most commonly results in subacute diplopia and ataxia. Diagnosis is achieved through a triad of the following findings: lymphocytic pleocytosis with increased CD4+ T cells on cerebrospinal fluid (CSF) analysis; perivascular punctate and curvilinear hemorrhages in the pons, medulla, or cerebellum on magnetic resonance imaging (MRI) with contrast; and the cessation of symptoms after the initiation of corticosteroids. Here, we report the case of a 23-year-old male who presented with non-specific signs and symptoms, including diffuse weakness in all limbs, ataxia, and slurred speech. The diagnosis was achieved through a contrast MRI of the brain, suggestive of brainstem encephalitis, and a CSF analysis, which revealed elevated glucose and protein levels. Intravenous methylprednisolone was administered for five days and resulted in acute improvement of the patient's clinical status. Repeat CSF analysis and MRI of the brain with contrast two weeks later showed resolution of previous findings. CLIPPERS syndrome is a newly identified disease thought to cause a predominantly inflammatory reaction in the pons, medulla, cerebellum, and supratentorial region. MRI with contrast tends to reveal a "salt and pepper appearance" in a punctate and curvilinear fashion. The hallmark of treatment is corticosteroid therapy, and discontinuation of therapy should be done with caution as relapse of the syndrome with corticosteroid withdrawal has been documented.
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The purpose of this article is to improve recognition and treatment of Wernicke-Korsakoff syndrome. It is well known that Korsakoff syndrome is a chronic amnesia resulting from unrecognized or undertreated Wernicke encephalopathy and is caused by thiamine (vitamin B1) deficiency. The clinical presentation of thiamine deficiency includes loss of appetite, dizziness, tachycardia, and urinary bladder retention. These symptoms can be attributed to anticholinergic autonomic dysfunction, as well as confusion or delirium, which is part of the classic triad of Wernicke encephalopathy. Severe concomitant infections including sepsis of unknown origin are common during the Wernicke phase. These infections can be prodromal signs of severe thiamine deficiency, as has been shown in select case descriptions which present infections and lactic acidosis. The clinical symptoms of Wernicke delirium commonly arise within a few days before or during hospitalization and may occur as part of a refeeding syndrome. Wernicke encephalopathy is mostly related to alcohol addiction, but can also occur in other conditions, such as bariatric surgery, hyperemesis gravidarum, and anorexia nervosa. Alcohol related Wernicke encephalopathy may be identified by the presence of a delirium in malnourished alcoholic patients who have trouble walking. The onset of non-alcohol-related Wernicke encephalopathy is often characterized by vomiting, weight loss, and symptoms such as visual complaints due to optic neuropathy in thiamine deficiency. Regarding thiamine therapy, patients with hypomagnesemia may fail to respond to thiamine. This may especially be the case in the context of alcohol withdrawal or in adverse side effects of proton pump inhibitors combined with diuretics. Clinician awareness of the clinical significance of Wernicke delirium, urinary bladder retention, comorbid infections, refeeding syndrome, and hypomagnesemia may contribute to the recognition and treatment of the Wernicke-Korsakoff syndrome.
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BACKGROUND: Gait disturbances are frequent side effects related to chronic thalamic deep brain stimulation (DBS) that may persist beyond cessation of stimulation. OBJECTIVE: We investigate the temporal dynamics and clinical effects of an overnight unilateral withdrawal of DBS on gait disturbances. METHODS: 10 essential tremor (ET) patients with gait disturbances following thalamic DBS underwent clinical and kinematic gait assessment ON DBS, after instant and after an overnight unilateral withdrawal of DBS of the hemisphere corresponding to the non-dominant hand. The effect of stimulation withdrawal on gait performance was quantitatively assessed using clinical rating and inertial sensors and compared to gait kinematics from 10 additional patients with ET but without subjective gait impairment. DBS leads were reconstructed and active contacts were visualized in relation to surrounding axonal pathways and nuclei. RESULTS: Patients with gait deterioration following DBS exhibited greater excursion of sagittal trunk movements and greater variability of stride length and shank range of motion compared to ET patients without DBS and without subjective gait impairment. Overnight but not instant unilateral withdrawal of DBS resulted in significant reduction of SARA axial subscore and stride length variability, while tremor control of the dominant hand was preserved. Cerebellothalamic, striatopallidofugal and corticospinal fibers were in direct vicinity of transiently deactivated contacts. CONCLUSION: Non-dominant unilateral cessation of VIM DBS may serve as a therapeutic option as well as a diagnostic intervention to identify stimulation-induced gait disturbances that is applicable in ambulatory settings due to preserved functionality of the dominant hand.
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Estimulação Encefálica Profunda , Tremor Essencial , Transtornos Neurológicos da Marcha , Estimulação Encefálica Profunda/métodos , Tremor Essencial/terapia , Marcha , Transtornos Neurológicos da Marcha/diagnóstico , Transtornos Neurológicos da Marcha/etiologia , Transtornos Neurológicos da Marcha/terapia , Humanos , Tálamo , Núcleos Ventrais do TálamoRESUMO
Osmotic demyelination syndrome is a neurological disorder caused by damage to the myelin sheath of brain cells secondary to rapid correction of hyponatremia. Clinical features are variable depending on the location of demyelination, with diagnosis confirmed by MRI. Once diagnosed, treatment is supportive. We present a 49-year-old female recently discharged from an outside hospital who presented with symptoms of tremors, ataxia, slurred speech, and confusion. The patient was diagnosed with osmotic demyelination syndrome based on the classic trident sign on MRI imaging. A review of her records showed rapid correction of serum sodium during her initial hospital visit.
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Neurological manifestations of coronavirus disease (COVID-19) have increasingly been reported since the onset of the pandemic. Herein, we report a relatively new presentation. A patient in the convalescence period following a febrile illness with lower respiratory tract infection (fever, myalgia, nonproductive cough) presented with generalized disabling myoclonus, which is phenotypically suggestive of brainstem origin, along with additional truncal cerebellar ataxia. His neurology work-ups, such as brain MRI, electroencephalography, serum autoimmune and paraneoplastic antibody testing, were normal. His CT chest scan revealed right lower lung infiltrates, and serological and other laboratory testing did not show evidence of active infection. COVID-19 titers turned out to be strongly positive, suggestive of post-COVID-19 lung sequelae. He responded partially to antimyoclonic drugs and fully to a course of steroids, suggesting a para- or postinfectious immune-mediated pathophysiology. Myoclonusataxia syndrome appears to be a neurological manifestation of COVID-19 infection, and knowledge regarding this phenomenon should be increased among clinicians for better patient care in a pandemic situation.