PURPOSE OF REVIEW: As artificial intelligence and machine learning technologies continue to develop, they are being increasingly used to improve the scientific understanding and clinical care of patients with severe diso...PURPOSE OF REVIEW: As artificial intelligence and machine learning technologies continue to develop, they are being increasingly used to improve the scientific understanding and clinical care of patients with severe disorders of consciousness following acquired brain damage. We here review recent studies that utilized these techniques to reduce the diagnostic and prognostic uncertainty in disorders of consciousness, and to better characterize patients' response to novel therapeutic interventions. RECENT FINDINGS: Most papers have focused on differentiating between unresponsive wakefulness syndrome and minimally conscious state, utilizing artificial intelligence to better analyze functional neuroimaging and electroencephalography data. They often proposed new features using conventional machine learning rather than deep learning algorithms. To better predict the outcome of patients with disorders of consciousness, recovery was most often based on the Glasgow Outcome Scale, and traditional machine learning techniques were used in most cases. Machine learning has also been employed to predict the effects of novel therapeutic interventions (e.g., zolpidem and transcranial direct current stimulation). SUMMARY: Artificial intelligence and machine learning can assist in clinical decision-making, including the diagnosis, prognosis, and therapy for patients with disorders of consciousness. The performance of these models can be expected to be significantly improved by the use of deep learning techniques.
PURPOSE OF REVIEW: This review intends to systematize the diagnostic and treatment approach to cerebral venous thrombosis (CVT), highlighting key studies that have been recently published. RECENT FINDINGS: In light of th...PURPOSE OF REVIEW: This review intends to systematize the diagnostic and treatment approach to cerebral venous thrombosis (CVT), highlighting key studies that have been recently published. RECENT FINDINGS: In light of the recent pandemic, new risk factors for CVT have emerged. Contrast-enhanced MRI and susceptibility-weighted imaging have been shown to offer increased sensitivity for detecting cortical vein thrombosis.Dabigatran seems to be as effective and well tolerated as warfarin for long-term anticoagulation. Partial venous recanalization often occurs in patients treated with anticoagulation only, as early as 8 days after treatment onset. For patients with CVT and impending brain herniation, two-thirds of those who undergo decompressive craniectomy survive, with one-third being functionally independent 6 months after diagnosis. SUMMARY: CVT is an unusual type of cerebrovascular disease that mostly affects women of fertile age. Risk factors should be identified and addressed. Diagnosis relies on confirmation of venous sinus and/or vein thrombosis, usually by CT venography or MRI. Anticoagulation is the cornerstone of treatment. Despite the lack of high-quality evidence, endovascular treatment is often considered in severe cases. Special populations require tailored approaches. About 80% achieve mRS 0-1, but residual symptoms often affect quality of life and the ability to return to work.
PURPOSE OF REVIEW: While wearable robotics is expanding within clinical settings, particularly for neurological rehabilitation, there is still a lack of consensus on how to effectively assess the performance of these dev...PURPOSE OF REVIEW: While wearable robotics is expanding within clinical settings, particularly for neurological rehabilitation, there is still a lack of consensus on how to effectively assess the performance of these devices. This review focuses on the most common metrics, whose selection and design are crucial for optimizing treatment outcomes and potentially improve the standard care. RECENT FINDINGS: The literature reveals that while wearable robots are equipped with various embedded sensors, most studies still rely on traditional, nontechnological methods for assessment. Recent studies have shown that, although quantitative data from embedded sensors are available (e.g., kinematics), these are underutilized in favor of qualitative assessments. A trend toward integrating automatic assessments from the devices themselves is emerging, with a few notable studies pioneering this approach. SUMMARY: Our analysis suggests a critical need for developing standardized metrics that leverage the data from embedded sensors in wearable robots. This shift could enhance the accuracy of patient assessments and the effectiveness of rehabilitation strategies, ultimately leading to better patient outcomes in neurological rehabilitation.
PURPOSE OF REVIEW: The purpose of this review is to discuss the value of blood and CSF biomarkers in primary CNS tumors. RECENT FINDINGS: Several analytes can be assessed with liquid biopsy techniques, including circulat...PURPOSE OF REVIEW: The purpose of this review is to discuss the value of blood and CSF biomarkers in primary CNS tumors. RECENT FINDINGS: Several analytes can be assessed with liquid biopsy techniques, including circulating tumor cells, circulating cell-free tumor DNA, circulating cell-free RNA, circulating proteins and metabolites, extracellular vesicles and tumor-educated platelets. Among diffuse gliomas of the adult, ctDNA in blood or CSF has represented the most used analyte, with the detection of molecular alterations such as MGMT promoter, PTEN, EGFRVIII, TERT promoter mutation and IDH R132H mutation. In general, CSF is enriched for ctDNA as compared with plasma. The use of MRI-guided focused ultrasounds to disrupt the blood-brain barrier could enhance the level of biomarkers in both blood and CSF. The detection of MYD88 L265P mutation with digital droplet PCR and the detection of ctDNA with next generation sequencing represent the best tools to diagnose and monitoring CNS lymphomas under treatment. In meningiomas, the low concentration of ctDNA is a limiting factor for the detection of driver mutations, such as NF2, AKTs, SMO, KLF4, TRAF7, SMARCB1, SMARCE1, PTEN, and TERT; an alternative approach could be the isolation of ctDNA through circulating extracellular vesicles. Liquid biopsies are being used extensively for diagnosis and surveillance of diffuse midline gliomas, in particular with the detection of the driver mutation H3K27M. Last, specific methylome patterns in CSF may allow the distinction of glioblastomas from CNS lymphomas or meningiomas. SUMMARY: This review summarizes the current knowledge and future perspectives of liquid biopsy of blood and CSF for diagnosis and monitoring of primary CNS tumors.
Curr Opin Neurol
· 2025 Feb · PMID 39325041
·
Full text
PURPOSE OF REVIEW: Intracerebral hemorrhage (ICH) is a devastating stroke with limited medical treatments; thus, timely exploration of emerging therapeutic targets is essential. This review focuses on the latest strategi...PURPOSE OF REVIEW: Intracerebral hemorrhage (ICH) is a devastating stroke with limited medical treatments; thus, timely exploration of emerging therapeutic targets is essential. This review focuses on the latest strategies to mitigate secondary brain injury post-ICH other than targeting surgery or hemostasis, addressing a significant gap in clinical practice and highlighting potential improvements in patient outcomes. RECENT FINDINGS: Promising therapeutic targets to reduce secondary brain injury following ICH have recently been identified, including attenuation of iron toxicity and inhibition of ferroptosis, enhancement of endogenous resorption of hematoma, and modulation of perihematomal inflammatory responses and edema. Additionally, novel insights suggest the lymphatic system of the brain may potentially play a role in hematoma clearance and edema management. Various experimental and early-phase clinical trials have demonstrated these approaches may potentially offer clinical benefits, though most research remains in the preliminary stages. SUMMARY: Continued research is essential to identify multifaceted treatment strategies for ICH. Clinical translation of these emerging targets could significantly enhance the efficacy of therapeutic interventions and potentially reduce secondary brain damage and improve neurological recovery. Future efforts should focus on large-scale clinical trials to validate these approaches, to pave the way for more effective treatment protocols for spontaneous ICH.
PURPOSE OF REVIEW: Current biological findings provide new insights into the genetics driving growth of low-grade gliomas in pediatric patients. This has provided new targets for novel therapies. The purpose of this pape...PURPOSE OF REVIEW: Current biological findings provide new insights into the genetics driving growth of low-grade gliomas in pediatric patients. This has provided new targets for novel therapies. The purpose of this paper is to review novel therapies for pediatric low-grade gliomas that have been published in the past 24 months. RECENT FINDINGS: Low-grade gliomas are often driven by mitogen activated protein kinase (MAPK) alterations either with BRAF V600E point mutations or BRAF fusions. Current advances have also highlighted novel fusions of fibroblast growth factor receptor (FGFR), myeloblastosis family of transcription factors (MYB), meningioma 1 tumor suppressor (MN1), neurotrophic receptor kinase family of receptors (NTRK), Kristen RAS (Rat Sarcoma Virus) oncogene homolog in mammals (KRAS), Receptor tyrosine kinase ROS proto oncogene 1 (ROS1), protein kinase C alpha (PRKCA), and platelet derive growth factor receptor (PDGFR) amplification. Novel therapies have been employed and are showing encouraging results in pediatric low-grade gliomas. Current trials are underway with newer generation pan RAF inhibitors and mitogen activated protein kinase - kinase (MEK) inhibitors. Other early phase clinical trials have provided safety data in pediatric patients targeting FGFR fusion, NTRK fusion, PDGFR amplification and ROS1 mutations. SUMMARY: Historical treatment options in pediatric low-grade gliomas have utilized surgery, radiation therapy and conventional chemotherapy. Recently greater insight into their biology has found that alterations in MAPK driven pathways are often the hallmark of tumorigenesis. Targeting these novel pathways has led to tumor control and shrinkage without the use of conventional chemotherapy. Caution should be taken however, since these treatment options are still novel, and we do not fully appreciate the long-term effects. Nonetheless a new era of targeted medicine is here.
Curr Opin Neurol
· 2024 Dec · PMID 39258745
·
Full text
PURPOSE OF REVIEW: Glioblastoma (GBM) is the most common and devastating primary malignant brain tumor. We summarize recent advances in radiotherapy, immunotherapy, and targeted therapy approaches for the treatment of ne...PURPOSE OF REVIEW: Glioblastoma (GBM) is the most common and devastating primary malignant brain tumor. We summarize recent advances in radiotherapy, immunotherapy, and targeted therapy approaches for the treatment of newly diagnosed and recurrent glioblastoma. We also introduce ongoing clinical trials. RECENT FINDINGS: Recent clinical trials have explored multiple novel strategies to treat GBM including the use of oncoviruses, chimeric antigen receptor (CAR) T cell therapy, vaccines, radiotherapy, and novel drug delivery techniques to improves drug penetrance across the blood brain barrier. Approaches to improve drug delivery to brain tumors have the potential to expand treatment options of existing therapies that otherwise have poor brain tumor penetrance. Immunotherapy has been of keen interest in both newly diagnosed and recurrent glioblastoma. Vaccines SurVaxM and DCVax-L have shown initial promise in phase II and III trials, respectively. CAR T cell therapy trials are in their early phases but hold promise in both newly diagnosed and recurrent glioblastoma. SUMMARY: Although progress to improve outcomes for GBM patients has been modest, multiple novel strategies utilizing combination therapies, focused ultrasound to improve drug delivery, and novel immunotherapies are underway.
PURPOSE OF REVIEW: Isocitrate dehydrogenase (IDH) mutation is a defining molecular driver of WHO grade 2-4 astrocytomas and oligodendrogliomas. In this article, we review the recent therapeutic approaches specifically ta...PURPOSE OF REVIEW: Isocitrate dehydrogenase (IDH) mutation is a defining molecular driver of WHO grade 2-4 astrocytomas and oligodendrogliomas. In this article, we review the recent therapeutic approaches specifically targeting IDH-mutant gliomas and summarize ongoing clinical trials in this population. RECENT FINDINGS: The IDH inhibitor vorasidenib recently demonstrated its efficacy after surgical resection in grade 2 IDH-mutated gliomas. Several studies in patients with IDH-mutant gliomas are currently exploring various strategies to target IDH mutations, including the use of small-molecule inhibitors, immunotherapies, peptide vaccines and agents targeting metabolic and epigenomic vulnerabilities. SUMMARY: Mutant-IDH targeting holds significant promise in treating progressive or recurrent IDH-mutant gliomas. Recent results with IDH inhibitors will change practice and influence the existing guidelines in a near future.
PURPOSE OF REVIEW: This review explores recent advances in using immersive virtual reality to improve bodily perception and motor control in rehabilitation across musculoskeletal and neurological conditions, examining ho...PURPOSE OF REVIEW: This review explores recent advances in using immersive virtual reality to improve bodily perception and motor control in rehabilitation across musculoskeletal and neurological conditions, examining how virtual reality's unique capabilities can address the challenges of traditional approaches. The potential in this area of the emerging metaverse and the integration of artificial intelligence in virtual reality are discussed. RECENT FINDINGS: In musculoskeletal rehabilitation, virtual reality shows promise in enhancing motivation, adherence, improving range of motion, and reducing kinesiophobia, particularly postsurgery. For neurological conditions like stroke and spinal cord injury, virtual reality's ability to manipulate bodily perceptions offers significant therapeutic potential, with reported improvements in upper limb function and gait performance. Balance and gait rehabilitation, especially in older adults, have also seen positive outcomes. The integration of virtual reality with brain-computer interfaces presents exciting possibilities for severe speech and motor impairments. SUMMARY: Current research is limited by small sample sizes, short intervention durations, and variability in virtual reality systems. Future studies should focus on larger, long-term trials to confirm findings and explore underlying mechanisms. As virtual reality technology advances, its integration into rehabilitation programs could revolutionize treatment approaches, personalizing treatments, facilitating home training, and potentially improving patient outcomes across a wide variety of conditions.
PURPOSE OF REVIEW: This review highlights recent developments in noninvasive brain stimulation (NIBS) techniques and applications for improving motor outcomes after stroke. Two promising areas of development relate to de...PURPOSE OF REVIEW: This review highlights recent developments in noninvasive brain stimulation (NIBS) techniques and applications for improving motor outcomes after stroke. Two promising areas of development relate to deep brain neuromodulation and the use of single-pulse transcranial magnetic stimulation (TMS) within a prediction tool for predicting upper limb outcome for individual patients. RECENT FINDINGS: Systematic reviews highlight the inconsistent effect sizes of interventional NIBS for motor outcome after stroke, as well as limited evidence supporting the interhemispheric competition model. To improve the therapeutic efficacy of NIBS, studies have leveraged metaplasticity and priming approaches. Transcranial temporal interference stimulation (tTIS) and low-intensity focused ultrasound stimulation (LIFUS) are emerging NIBS techniques with potential for modulating deeper brain structures, which may hold promise for stroke neurorehabilitation. Additionally, motor evoked potential (MEP) status obtained with single-pulse TMS is a prognostic biomarker that could be used to tailor NIBS for individual patients. SUMMARY: Trials of interventional NIBS to improve stroke outcomes may be improved by applying NIBS in a more targeted manner. This could be achieved by taking advantage of NIBS techniques that can be targeted to deeper brain structures, using biomarkers of structural and functional reserve to stratify patients, and recruiting patients in more homogeneous time windows.
PURPOSE OF REVIEW: This article discusses commonly encountered medical and neurological complications in patients with brain tumors and highlights recommendations for their management based on updated evidence. RECENT FI...PURPOSE OF REVIEW: This article discusses commonly encountered medical and neurological complications in patients with brain tumors and highlights recommendations for their management based on updated evidence. RECENT FINDINGS: Use of dexamethasone is correlated with worse prognosis in patients with glioblastoma, and in brain metastases, high doses may lead to increased side effects without additional clinical benefit. There are multiple antiseizure medications (ASM) to choose from and possible interactions and toxicity must be considered when choosing an agent. Additionally, there is growing interest in the use of AMPA receptor blockers as ASM in patients with brain tumors. Nonpharmacological strategies for the management of fatigue remain paramount. Cognitive decline is common after whole brain radiation (WBRT) and hippocampal-sparing WBRT results in superior cognitive outcomes. Venous thromboembolism is a common complication and there is growing evidence on the use of direct oral anticoagulants (DOACs) in this population. SUMMARY: There is evolving evidence on the management of medical and neurological complications in patients with brain tumors. These complications, require early identification and multidisciplinary collaboration and expertise.
PURPOSE OF REVIEW: In the last 30 years, there have many publications describing the pattern of muscle involvement of different neuromuscular diseases leading to an increase in the information available for diagnosis. A...PURPOSE OF REVIEW: In the last 30 years, there have many publications describing the pattern of muscle involvement of different neuromuscular diseases leading to an increase in the information available for diagnosis. A high degree of expertise is needed to remember all the patterns described. Some attempts to use artificial intelligence or analysing muscle MRIs have been developed. We review the main patterns of involvement in limb girdle muscular dystrophies (LGMDs) and summarize the strategies for using artificial intelligence tools in this field. RECENT FINDINGS: The most frequent LGMDs have a widely described pattern of muscle involvement; however, for those rarer diseases, there is still not too much information available. patients. Most of the articles still include only pelvic and lower limbs muscles, which provide an incomplete picture of the diseases. AI tools have efficiently demonstrated to predict diagnosis of a limited number of disease with high accuracy. SUMMARY: Muscle MRI continues being a useful tool supporting the diagnosis of patients with LGMD and other neuromuscular diseases. However, the huge variety of patterns described makes their use in clinics a complicated task. Artificial intelligence tools are helping in that regard and there are already some accessible machine learning algorithms that can be used by the global medical community.
PURPOSE OF REVIEW: Cognitive impairment is one of the most challenging non-motor symptoms of Parkinson's disease (PD) and may occur during all PD stages. There are no established pharmacological treatments for PD-related...PURPOSE OF REVIEW: Cognitive impairment is one of the most challenging non-motor symptoms of Parkinson's disease (PD) and may occur during all PD stages. There are no established pharmacological treatments for PD-related cognitive impairment, which may be improved by cognition-based interventions (i.e., cognitive stimulation, cognitive training, cognitive rehabilitation). Multimodal cognition-based interventions by adjunctive drugs, exercise, non-invasive brain stimulation and technologies may be effective in PD. RECENT FINDINGS: Exercise combined with cognitive training may enhance global, memory, visuospatial and executive functioning, transcranial direct current stimulation delivered alongside cognitive training may improve attention and executive functioning, and exergames, semi-immersive virtual reality (VR) and telerehabilitation plus non-immersive VR combined with cognitive training may ameliorate global and executive functioning in PD patients. SUMMARY: The evidence reviewed here, despite preliminary, is very encouraging and suggests strong rationale for combining pharmacological and non-pharmacological interventions with cognition-based treatments in PD. To overcome limitations of current studies, we propose some recommendations for future trials on drugs, exercise, non-invasive brain stimulation and technologies combined with cognition-based treatments for cognitive impairment in PD.
PURPOSE OF REVIEW: Recent development in understanding the pathophysiology of amyotrophic lateral sclerosis (ALS) has led to increasing number of promising test drugs in the pipeline along with the existing ones. We will...PURPOSE OF REVIEW: Recent development in understanding the pathophysiology of amyotrophic lateral sclerosis (ALS) has led to increasing number of promising test drugs in the pipeline along with the existing ones. We will review these agents focusing on ultra-high dose methylcobalamin, which is pending approval in Japan. Clinical trial design best suited for ALS will also be discussed. RECENT FINDINGS: The most recent phase 3 trial (JETALS) of ultra-high dose methylcobalamin demonstrated significant slowing of ALSFRSR changes (0.5/month), with marked reduction of serum homocysteine levels in the initial double-blind period. The post hoc analysis of the previous phase 2/3 study (E761 trial; Eisai) showed that it prolonged survival of ALS patients, if started within 1 year of onset, but the previous studies suggested its efficacy even in later stages, depending upon the rate of progression. Phase 3 trial of AMX0035 or Relyvrio on the other hand showed negative results despite the promising phase 2 data. The latter did not adjust the disease progression rate before entry. SUMMARY: Ultra-high dose methylcobalamin is not a vitamin supplement but a novel disease-modifying therapy for ALS, and it emphasizes homocysteine as a key factor in the disease process. Clinical trial design must include entering patients early and with similar rates of progression using pretrial observation periods for meaningful results, since ALS is a chronologically heterogenous condition with similar phenotypes.
Curr Opin Neurol
· 2024 Oct · PMID 39083076
·
Full text
PURPOSE OF REVIEW: Inherited peripheral neuropathies can be divided into those diseases in which peripheral neuropathy is the sole or main feature of the disease (Charcot-Marie-Tooth disease) and those in which periphera...PURPOSE OF REVIEW: Inherited peripheral neuropathies can be divided into those diseases in which peripheral neuropathy is the sole or main feature of the disease (Charcot-Marie-Tooth disease) and those in which peripheral neuropathy is just one feature of a more complex syndrome. In recent years there has been a substantial expansion in the number of genes associated with complex neuropathy syndromes. RECENT FINDINGS: This review will focus on emerging themes in this group of diseases, namely the increasing number of diseases due to repeat expansions; the emergence of both recessive and dominant negative alleles in the same gene producing a common phenotype and diseases in which there is selective loss of the allele from haematopoietic stem cells making genetic diagnosis on blood derived DNA problematic. SUMMARY: In this review we provide a practical approach to investigating and diagnosing patients with peripheral neuropathy as part of a complex syndrome and provide an updated table of the genes associated with this group of diseases.
PURPOSE OF REVIEW: Leprosy is still an important cause of neuropathy. Late diagnosis is associated with development of severe nerve impairment. RECENT FINDINGS: early diagnosis and early treatment is essential in order t...PURPOSE OF REVIEW: Leprosy is still an important cause of neuropathy. Late diagnosis is associated with development of severe nerve impairment. RECENT FINDINGS: early diagnosis and early treatment is essential in order to avoid disability and disease transmission. Recognizing that leprosy is a neurological disease is a fundamental step to the Leprosy zero action proposed by the World Health Organization. SUMMARY: leprosy neuropathy manifests as a mononeuropathy or a multiple mononeuropathy with a temperature-dependent distribution. Electromyography, high-resolution sonography serology and PCR help make the diagnosis. Multidrug therapy should be instituted.