Upper Motor Neuron Research Articles

ANGIOPLASTIC STENOSIS IN SPONTANEOUS BILATERAL CAROTIC ARTERY DISSECTION: A CASE REPORT

Case: A 28-years-old woman presented with sudden right extremities weakness, right sided facial droop, and not being able to speak. On examination, the patient had upper motor neuron (UMN) hemiplegia and motor aphasia. On blood laboratory, we found D-dimer level of 1068 ng/dl. A non-contrast head CT-scan and CT-angiography showed left cerebral hemisphere infarction, and bilateral carotid artery stenosis. Further investigation with transcranial Doppler demonstrated partial stenosis of internal carotid artery (ICA). On cerebral digital subtraction angiography (DSA), we observed pseudoaneurysm on the right ICA and flame-shaped appearance on the left ICA, both are common radiological finding of ICA dissection. Then we performed stenting angioplasty on bilateral ICA to provide recanalization, and aspirin 80mg q.d. and clopidogrel 75mg q.d. was initiated. Conclusion: Spontaneous dissection of the carotid artery can occur on young adults. DSA is considered as the gold standard for vascular examination, and stenting with angioplasty was performed for recanalization to prevent the progression to severe stroke.

Assessing proprioception in children with upper motor neuron lesions: feasibility, validity, and reliability of the proprioception measurement tool.

To investigate the feasibility, discriminative and convergent validity, and reliability of a lower limb sensor-based proprioception measure in children with upper motor neuron (UMN) lesions. We assessed three proprioception modalities (joint movement, joint position, and dynamic position sense) of the lower limbs in 49 children with UMN lesions and 50 typically developing (TD) peers (5-19 years). Forty-three children with UMN lesion had a congenital and six an acquired brain lesion and 82% were able to walk without a walking aid. We evaluated the feasibility, compared the test results between children with UMN lesions and TD peers, and calculated Spearman correlations (rs) between the modalities. We quantified relative reliability with Intra-Class Correlation Coefficients (ICC) and absolute reliability with Smallest Detectable Changes (SDC). Most children with UMN lesions (>88%) found the tests easy to perform. The children with UMN lesions had significantly (p < 0.001) lower proprioceptive function than the TD children. The correlation between the three proprioceptive modalities was moderate to high (0.50 ≤ rs ≤ 0.79). The relative reliability for test-retest and the inter-rater reliability was moderate to high (ICCs = 0.65-0.97), and SDC was between 2° and 15°. The three tests are feasible, and discriminative and convergent validity and reliability were confirmed. Further studies should investigate the influence on motor function and performance in children with UMN lesions.

Lateral Medullary Syndrome Presenting as Section Persistent Singultus and Upper Motor Neuron Facial Palsy in a young Adult: A Rare Case

Lateral Medullary Syndrome (LMS) is a collection of different neurologic symptoms after cerebral haemorrhage/infarction. The areas most frequently afflicted are the cerebellum and the posterolateral portion of the brain stem’s medulla oblongata; the Posterior Inferior Cerebellar Artery (PICA) supplies blood. Dizziness, vertigo, nystagmus, nausea, ataxia, dysphagia, vomiting, hiccups, hoarseness, sensation impaired on half of the face, impaired thermal sensation and pain on the contralateral side of the limbs, trunk, ipsilateral face, along with Horner’s syndrome are amongst the typical symptoms of lateral medullary infarction. Hiccups are among the signs that are simple to ignore, although they can also result in oesophagitis, and respiratory depression, as Wallenberg’s syndrome is the most frequently reported. The authors discuss the case of a 30-year-old male who complained of recurrent, uncontrollable hiccups as an LMS-presenting symptom and was brought to our hospital. He arrived at our emergency room complaining of persistent, intractable hiccups and cerebellar symptoms on the left-side. In addition to being hypertensive, he had a long history of tobacco (chewing) and alcohol addictions dating back six years. He had 7, 9 and 10th cranial nerve involvement. The authors are reporting this case because the patient had Upper Motor Neuron (UMN)-type facial palsy, a rare presentation in LMS

Assessing the efficacy of amyotrophic lateral sclerosis drugs in slowing disease progression: A literature review.

Amyotrophic lateral sclerosis (ALS) is a fatal and intricate neurodegenerative disease that impacts upper and lower motor neurons within the central nervous system, leading to their progressive destruction. Despite extensive research, the pathogenesis of this multifaceted disease remains elusive. The United States Food and Drug Administration (FDA) has granted approval for seven medications designed to address ALS and mitigate its associated symptoms. These FDA-sanctioned treatments are Qalsody, Relyvrio, Radicava, Rilutek, Tiglutik, Exservan, and Nuedexta. In this review, the effects of these seven drugs on ALS based on their mechanism of action, dosing, and clinical presentations are comprehensively summarized. Each medication offers a distinct approach to manage ALS, aiming to alleviate the burdensome symptoms and slow the disease's progression, thereby improving the quality of life for individuals affected by this neurological condition. However, despite these advancements in pharmaceutical interventions, finding a definitive cure for ALS remains a significant challenge. Continuous investigation into ALS pathophysiology and therapeutic avenues remains imperative, necessitating further research collaborations and innovative approaches to unravel the complex mechanisms underlying this debilitating condition.

Physical exercise in amyotrophic lateral sclerosis: a potential co-adjuvant therapeutic option to counteract disease progression.

Amyotrophic lateral sclerosis (ALS) is a fatal disorder characterized by the selective degeneration of upper and lower motor neurons, leading to progressive muscle weakness and atrophy. The mean survival time is two to fiveyears. Although the hunt for drugs has greatly advanced over the past decade, no cure is available for ALS yet. The role of intense physical activity in the etiology of ALS has been debated for several decades without reaching a clear conclusion. The benefits of organized physical activity on fitness and mental health have been widely described. Indeed, by acting on specific mechanisms, physical activity can influence the physiology of several chronic conditions. It was shown to improve skeletal muscle metabolism and regeneration, neurogenesis, mitochondrial biogenesis, and antioxidant defense. Interestingly, all these pathways are involved in ALS pathology. This review will provide a broad overview of the effect of different exercise protocols on the onset and progression of ALS, both in humans and in animal models. Furthermore, we will discuss challenges and opportunities to exploit physiological responses of imposed exercise training for therapeutic purposes.

The relationship between the functional status of upper extremity motor neurons and motor function and prognosis in stroke patients.

This study investigates the correlation between neuroelectrop-hysiological assessments such as motor unit number estimation (MUNE) and F-waves with upper extremity motor function and one-year prognosis in stroke patients. Neuroelectrophysiological assessments of the abductor pollicis brevis muscle, including MUNE and F-waves, were conducted. Upper extremity motor function was evaluated using the Fugl-Meyer Assessment of Upper Extremity (FMA-UE) and the Modified Ashworth Scale (MAS). Pearson correlation and multiple linear regression analyses were performed to explore the relationship between upper extremity motor function and variables such as MUNE and F-waves. ROC curve analysis assessed the predictive ability of MUNE and F-waves for upper extremity motor function, and binary logistic regression analysis examined factors related to motor function improvement 1 year post-discharge. A total of 130 patients were ultimately included. Significant differences in MUNE and occupancy rate of non-repeater F-waves (non-ORF) were found between hemiplegic and unaffected sides (p < 0.001), with a significant difference in F-wave mean latency (p < 0.05). Pearson correlation analysis showed a positive correlation between FMA-UE at admission and hemiplegic side's MUNE and non-ORF (p < 0.001). Multiple linear regression indicated that hemiplegic side's MUNE (β = 0.88, p < 0.001) and non-ORF (β = 0.275, p = 0.005) influenced FMA-UE. ROC analysis demonstrated higher predictive ability for hemiplegic side's MUNE (AUC = 0.696, p < 0.001) than non-ORF (AUC = 0.622, p = 0.018). Binary logistic regression showed that hemiplegic side's MUNE was associated with FMA-UE improvement 1 year post-discharge. MUNE and F-waves are correlated with upper extremity motor function in patients, reflecting their motor function status. These indicators have good predictive value for motor function and are associated with the prognosis of upper extremity motor function to a certain extent.

Surface electromyography of the vastus lateralis and gluteus medius muscles in post-operative T3-L3 hemilaminectomy dogs: a prospective controlled observational study.

The objective of this study was to determine if surface electromyography (sEMG) demonstrates differences in muscle activation between normal and dogs recovering from spinal cord injury due to intervertebral disk extrusion. Two groups of client-owned small-breed chondrodysplastic-type dogs were tested. Group 1 consisted of seven ambulatory paraparetic dogs that had undergone a hemilaminectomy procedure in the T3-L3 region for intervertebral disk extrusion 1 month prior. Group 2 was made up of seven normal dogs that had no history of intervertebral disk disease or spinal surgery. Each subject walked 10 feet on a nonslip surface for at least five gait cycles for the sEMG to capture muscle activation of the vastus lateralis and gluteus medius, bilaterally. Muscle activation was quantified as the total myoelectric output area under the curve, averaged across all gait cycles. Muscle activation was significantly greater in the post-operative hemilaminectomy group (p = 0.012). There was a significant difference in muscle activation between each hindlimb in the post-operative hemilaminectomy group, but not in the normal group. The muscle activation was significantly lower on the side that underwent surgery compared to the opposite limb (p = 0.0034). Post-operative hemilaminectomy dogs have greater hindlimb muscle activation compared to normal dogs, which likely represents a lack of descending inhibition secondary to upper motor neuron syndrome. The side of surgery is correlated with decreased muscle activation. Surface EMG can be used to evaluate muscle activity in dogs recovering from spinal decompression surgery.

Temporal and spatial progression of microstructural cerebral degeneration in ALS: A multicentre longitudinal diffusion tensor imaging study

ObjectiveThe corticospinal tract (CST) reveals progressive microstructural alterations in ALS measurable by DTI. The aim of this study was to evaluate fractional anisotropy (FA) along the CST as a longitudinal marker of disease progression in ALS. MethodsThe study cohort consisted of 114 patients with ALS and 110 healthy controls from the second prospective, longitudinal, multicentre study of the Canadian ALS Neuroimaging Consortium (CALSNIC-2). DTI and clinical data from a harmonized protocol across 7 centres were collected. Thirty-nine ALS patients and 61 controls completed baseline and two follow-up visits and were included for longitudinal analyses. Whole brain-based spatial statistics and hypothesis-guided tract-of-interest analyses were performed for cross-sectional and longitudinal analyses. ResultsFA was reduced at baseline and longitudinally in the CST, mid-corpus callosum (CC), frontal lobe, and other ALS-related tracts, with alterations most evident in the CST and mid-CC. CST and pontine FA correlated with functional impairment (ALSFRS-R), upper motor neuron function, and clinical disease progression rate. Reduction in FA was largely located in the upper CST; however, the longitudinal decline was greatest in the lower CST. Effect sizes were dependent on region, resulting in study group sizes between 17 and 31 per group over a 9-month interval. Cross-sectional effect sizes were maximal in the upper CST; whereas, longitudinal effect sizes were maximal in mid-callosal tracts. ConclusionsProgressive microstructural alterations in ALS are most prominent in the CST and CC. DTI can provide a biomarker of cerebral degeneration in ALS, with longitudinal changes in white matter demonstrable over a reasonable observation period, with a feasible number of participants, and within a multicentre framework.

Juvenile amyotrophic lateral sclerosis caused by a mutation in the SPTLC2 gene: case presentation

Juvenile amyotrophic lateral sclerosis (ALS) is a rare group of motor neuron diseases, with the age of onset up to 25 years. Juvenile ALS more commonly has genetic origin vs. sporadic forms of ALS that develop in adulthood. Genetic analysis of these cases with early onset makes it possible to identify the genes responsible for the disease. Here we present a case of a rare variant of juvenile ALS caused due to the SPTLC2 gene mutation.&#x0D; Cases with early disease onset are characterized by slow progression and variable phenotype, which often makes accurate diagnosis challenging. Therefore patients with combined upper and lower motor neuron disorders aged under 25 years should undergo comprehensive examination, in particular to identify gene mutations.

Diagnosis of amyotrophic lateral sclerosis by respiratory function test.

The diagnostic criterion for amyotrophic lateral sclerosis (ALS) based on the findings of concomitant clinical and electrophysiological evidence of upper and lower motor neuron involvement may remain unsatisfied for months and in some patients, even for years in the early stage of the disease. Since respiratory involvement is an onset symptom of ALS in only 1-3% of patients, pulmonary assessment has never been considered useful in the early diagnosis of ALS. However, studies on pulmonary function are lacking, especially in those early stages where neurologic tests are also inconclusive. In contrast to the scarcity of data in the early stages, as the disease progresses, it is increasingly enriched by a rich set of symptoms and positive respiratory tests until respiratory failure occurs, which represents the main cause of death in ALS. Hereby we analyze the main pulmonary function tests (PFT) in the various stages of the disease, up to the recent evidence for the possibility of an early diagnosis.

Evolution of the Amyotrophic Lateral Sclerosis Diagnostic Criteria Towards the Gold Coast Criteria

Amyotrophic lateral sclerosis (ALS) is a fatal, neurodegenerative disorder characterized by progressive degeneration of upper and lower motor neurons (LMNs). Careful history taking, neurological examination, and electromyography are used to confirm its clinical diagnosis. The El Escorial, revised El Escorial and Awaji criteria have proposed varying degrees of diagnostic probability for ALS. However, such categories may cause uncertainty among patients regarding the certainty of diagnosis. Cases labeled as “possible ALS” also risk exclusion from clinical trials. To clarify and simplify the diagnostic criteria of ALS, the previous diagnostic categories of possible, probable, and definite were abandoned in the newly suggested criteria, Gold Coast criteria. The simplified criteria offer practical utility for precise diagnosis of LMN-predominant ALS and clinical trial recruitment going forward.

Eosinophils at diagnosis are elevated in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a rare, devastating neurodegenerative disease that affects upper and lower motor neurons. To date, no effective treatment or reliable biomarker for ALS has been developed. In recent years, many factors have been proposed as possible biomarkers of ALS; however, no consensus has been reached. Therefore, a reliable biomarker is urgently needed. Eosinophils may play a crucial role in healthy humans and diseases, and serve as a biomarker for many chronic diseases. Routine blood test results were collected from 66 healthy controls and 59 patients with ALS. The percentages and total numbers of each cell population were analyzed, and the correlation between these indicators and patient ALS functional rating scale-revised (ALSFRS-R) score or disease progression rate (ΔFS score) was analyzed. Compared to healthy controls, the number of blood leukocytes, neutrophils, monocytes, and basophils was significantly decreased in patients with ALS (p = 0.002, p = 0.001, p = 0.049, and p < 0.0001, respectively). There was an increase in the number of eosinophils (p < 0.0001), but no difference in the number of lymphocytes between patients with ALS and healthy controls was found (p = 0.563). Compared to healthy controls, the percentage of neutrophils was decreased and the percentage of lymphocytes and eosinophils was increased in patients with ALS (p = 0.01, p = 0.012, and p = 0.001, respectively). There was no difference between patients with ALS and healthy controls in the percentage of monocytes and basophils (p = 0.622 and p = 0.09, respectively). However, only the percentage and number of eosinophils had a correlation with the ΔFS score. Further multivariate analysis revealed a significant correlation between the disease duration, eosinophil count and percentage, and the disease progression rate (p < 0.0001, p = 0.048, and p = 0.023, respectively). The neutrophil-to-eosinophil ratio (NER), lymphocyte-to-eosinophil ratio (LER), and monocyte-to-eosinophil ratio (MER) were significantly lower in patients with ALS than in healthy controls. However, only the LER was significantly correlated with the ΔFS score. These observations implicate neutrophils, lymphocytes, and eosinophils as important factors, and increasing eosinophil counts were negatively correlated with the ΔFS score in patients with ALS.

ALS iPSC-derived microglia and motor neurons respond to astrocyte-targeted IL-10 and CCL2 modulation.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the loss of upper and lower motor neurons (MNs). The loss of MNs in ALS leads to muscle weakness and wasting, respiratory failure, and death often within two years of diagnosis. Glial cells in ALS show aberrant expression of pro-inflammatory and neurotoxic proteins associated with activation and have been proposed as ideal therapeutic targets. In this study, we examined astrocyte-targeted treatments to reduce glial activation and neuron pathology using cells differentiated from ALS patient-derived iPSC carrying SOD1 and C9ORF72 mutations. Specifically, we tested the ability of increasing interleukin 10 (IL-10) and reducing C-C motif chemokine ligand 2 (CCL2/MCP-1) signaling targeted to astrocytes to reduce activation phenotypes in both astrocytes and microglia. Overall, we found IL10/CCL2NAb treated astrocytes to support anti-inflammatory phenotypes and reduce neurotoxicity, through different mechanisms in SOD1 and C9ORF72 cultures. We also found altered responses of microglia and motor neurons to astrocytic influences when cells were cultured together rather than in isolation. Together these data support IL-10 and CCL2 as non-mutation-specific therapeutic targets for ALS and highlight the role of glial-mediated pathology in this disease.

Primary lateral sclerosis: more than just an upper motor neuron disease.

Primary lateral sclerosis: more than just an upper motor neuron disease.

Clinical significance of dynamical network indices of surface electromyography for reticular neuromuscular control assessment

BackgroundThere is currently no objective and accurate clinical assessment of reticular neuromuscular control in healthy subjects or patients with upper motor neuron injury. As a result, clinical dysfunctions of neuromuscular control could just be semi-quantified, efficacies and mechanisms of various therapies for neuromuscular control improving are difficult to verify.MethodsFourteen healthy participants were required to maintain standing balance in the kinetostatics model of Gusu Constraint Standing Training (GCST). A backward and upward constraint force was applied to their trunk at 0°, 20° and 25°, respectively. The multiplex recurrence network (MRN) was applied to analyze the surface electromyography signals of 16 muscles of bilateral lower limbs during the tests. Different levels of MRN network indices were utilized to assess reticular neuromuscular control.ResultsCompared with the 0° test, the MRN indices related to muscle coordination of bilateral lower limbs, of unilateral lower limb and of inter limbs showed significant increase when participants stood in 20° and 25° tests (P < 0.05). The indices related to muscle contribution of gluteal, anterior thigh and calf muscles significantly increased when participants stood in 20° and 25° tests (P < 0.05).ConclusionsThis study applied the dynamical network indices of MRN to analyze the changes of neuromuscular control of lower limbs of healthy participants in the kinetostatics model of GCST. Results showed that the overall coordination of lower limb muscles would be significantly enhanced during performing GCST, partly by the enhancement of neuromuscular control of single lower limb, and partly by the enhancement of joint control across lower limbs. In particular, the muscles in buttocks, anterior thighs and calves played a more important role in the overall coordination, and their involvement was significantly increased. The MRN could provide details of control at the bilateral lower limbs, unilateral lower limb, inter limbs, and single muscle levels, and has the potential to be a new tool for assessing the reticular neuromuscular control.Trial registration ChiCTR2100055090

Amyotrophic Lateral Sclerosis – A Comprehensive Review

Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease, generally said to affect people with an age between 50 years and 70 years. Signs of upper motor neuron and lower motor neuron damage, which are not explained by any other disease process, and are the reasons behind ALS. It attacks the neurons in the brain and spinal cord. These neurons transmit messages from brain and spinal cord to the voluntary muscles. At first, it causes mild muscle problems. Some people show symptoms like difficulty in walking, running, writing and speech. Eventually, the patient may lose the strength and cannot move. Due to the depletion of neuronal transmission to muscles in the chest, the patient may report difficulty to breath. The loss of lower motor neurons leads to flaccid paralysis, decreased muscle tone, decreased reflexes, muscle weakness, muscle atrophy. The defining feature of ALS is the death of both upper and lower motor neurons in the motor cortex of the brain, the brain stem, and the spinal cord. There are small eosinophilic, hyaline intra-cytoplasmic inclusions that stain positive for cystatin and transferring and are present in 70–100% of cases. Environmental and lifestyle factors play a major role in the development of ALS, but no conclusive evidence is available to support making specific changes to decrease the risk of the disease, Genetic mutations can lead to inherited ALS, which appears nearly identical to the non-inherited form. Patients with ALS generally have higher levels of glutamate in the brain, around the nerve cells in their spinal fluid. ALS patients may experience pain involving more than one type, no rigid treatment program that involves the sole use of a single agent should be employed to treat ALS-associated pain conditions. Opioids have proven to be effective in providing pain relief in advanced disease. Nevertheless, these therapies lack the ability to induce long-term lasting effects without constant administration. Over the last decade awareness of ALS has significantly increased, diagnosis is being achieved in a more timely fashion, and overall care is better. This review gives a comprehensive information about the symptoms, pathophysiology common causes, drugs currently used in the treatment.

Dental Management of Patients With Amyotrophic Lateral Sclerosis.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects the upper and lower motor neurons with upper and lower motor neuron manifestations. It is divided into two variants: a spinal onset and a bulbar onset. The first starts as focal muscle weakness and wasting that spreads with disease progression, while the secondphenotype presents with dysarthria, dysphonia, and dysphagia. Moreover, an extra-motor manifestation could be reported with the most commonly reported symptoms being the change in cognition and sleep disorder. Oral manifestations include increased salivation, limited mouth opening, and dysphagia. Patients with ALS have difficulty maintaining oral hygiene, and it is important for the practitioner and the caregiver to take care of this group of population. We herein provide a short review of the disease with a focus on the oral manifestations and dental considerations for management for this group.

Case Study Insights: Passive Range of Motion and Extended Stretching in Improving Functional Mobility for Individuals with Spastic Cerebral Palsy

Cerebral Palsy (CP) is a non-progressive neuromuscular disorder of cerebral origin. It includes a number of clinical disorders, mostly arising in childhood. The essential features vary the degree of upper motor neuron type of limb paralysis (spasticity 70-80%), together with difficulty in coordination (ataxia) and purposeless movements (athetosis). A single case study 3 years old male of spastic CP &amp; with a score of 2 on a modified Ashworth scale, Chief complaints of difficulty in neck control &amp; delayed milestones. Passive ROM and prolonged stretching for the lower limb have been given to improve ROM, spasticity and mobility. decrease in spasticity and improvement in range of motion. There was a significant decrease in spasticity and improvement in the range of motion by using the digital goniometer and modified Ashworth scale in children with spastic cerebral palsy. Keywords: Cerebral palsy, Stretching, Spasticity

A neurophysiological approach to mirror movements in amyotrophic lateral sclerosis

ObjectiveTo investigate mirror activity in amyotrophic lateral sclerosis (ALS) patients, using a simple paradigm of signal quantification. MethodsPatients were asked to perform a brief isometric maximum contraction of the abductor digiti minimi (ADM) or tibialis anterior (TA) on one side, while relaxing the contralateral side of the body. Both sides were investigated. Signals were stored and analyzed offline, for quantification of electromyographic signal. Clinical signs of upper motor neuron (UMN) dysfunction, transcranial magnetic stimulation (TMS) for the upper (UL) and lower limbs (LL), the ADM ipsilateral cortical silent period (iSP) and the Edinburgh Cognitive and Behavioral ALS Screen (ECAS) cognitive scale were also investigated. Results42 ALS patients were included. In the 4 investigated muscles the amount of mirror activity was significantly higher than in the matched healthy group. The amount of mirror activity was similar between sides, but significantly higher in UL and LL with abnormal TMS results for ADM (p = 0.005) and TA (p = 0.002), as well as in UL with abnormal iSP values (p = 0.009). No association was found between mirror activity and clinical signs of UMN involvement. ConclusionsMirror activity is a common phenomenon in ALS. Mirror activity intensity corresponds to the severity of UMN dysfunction, as measured by TMS, and probably derives from the abnormal transcallosal inhibition as mirrored by iSP abnormality. SignificanceMirror activity is increased in ALS and is associated with abnormal transcallosal inhibition and UMN dysfunction.

Corticobasal syndrome mimicking Foix-Chavany-Marie syndrome with suggested 4-repeat tauopathy by tau PET

BackgroundCorticobasal syndrome (CBS) is a neurodegenerative disease diagnosed based on clinical manifestations such as asymmetrical parkinsonism, limb apraxia, and speech and language impairment. The background pathology of CBS is commonly a variety of proteinopathies, but association with cerebrovascular disease has also been reported. Foix-Chavany-Marie syndrome (FCMS) is a rare neurological disorder characterized by facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation presenting with bilateral paresis of the facial, lingual, pharyngeal and masticatory muscles. FCMS is commonly attributable to stroke. Transactive response DNA binding protein of 43 kD (TDP-43) proteinopathy is also known as the pathological background of FCMS, while the pathological background of the majority of CBS cases consists of diverse tauopathies instead of TDP-43 proteinopathy. In this report, we describe a case mimicking FCMS that was finally diagnosed as CBS with suggested 4-repeat tauopathy.Case presentationA 68-year-old female started experiencing difficulty speaking followed by difficulty writing, and especially texting, several years before her visit. Her impairment had been gradually worsening, and she came to our hospital. On neurological examination, she demonstrated the facial apraxia, frontal lobe dysfunction, and upper motor neuron signs. She presented some characteristics suggestive of FCMS. Her symptoms exhibited rapid progression and myoclonus, parkinsonism, and left-side dominant cortical sensory deficit occurred, resulting in the fulfillment of diagnostic criteria for CBS after 9 months. Tau PET imaging displayed notable ligand uptake in the brainstem, subthalamic nuclei, basal ganglia, and bilateral subcortical frontal lobe, suggesting that her pathological background was 4-repeat tauopathy. As a result of her progressive dysphagia, she became unable to eat and passed away after 12 months.ConclusionWe hereby present an atypical case of CBS showing clinical features mimicking FCMS at first presentation. TDP-43 proteinopathy was suspected based on the clinical symptoms in the early stages of the disease; however, the clinical course and imaging findings including tau PET suggested that her pathological background was 4-repeat tauopathy.