Curr Neurol Neurosci Rep [JOURNAL]
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200 papers
Updates on Mitochondrial Myopathies.
Barca E, Emmanuele V
Curr Neurol Neurosci Rep · 2025 Aug · PMID 40760245 · Publisher ↗
PURPOSE OF REVIEW: Mitochondrial myopathies (MM) are a genetically and clinically heterogeneous group of disorders that remain underrecognized in adult and pediatric neurology. This review aims to provide a clinically us...
PURPOSE OF REVIEW: Mitochondrial myopathies (MM) are a genetically and clinically heterogeneous group of disorders that remain underrecognized in adult and pediatric neurology. This review aims to provide a clinically useful tool for guiding diagnosis and management of MM. We also highlight the rapidly evolving diagnostic and therapeutic landscape, including novel diagnostic approaches and disease-modifying interventions. RECENT FINDINGS: Large cohort data highlight key clinical subtypes - fixed myopathies, syndromic forms, and metabolic myopathies- with distinct diagnostic implications. Novel tools such as GDF-15, long-read mtDNA sequencing, and multi-omic approaches are enhancing diagnostic sensitivity. Emerging therapies for TK2 deficiency and precision mitochondrial gene editing are progressing rapidly, with several nearing regulatory decisions. Numerous preclinical therapeutic strategies are currently under development, offering promise for improving outcomes in these otherwise devastating disorders. Recognizing MM in clinical settings is essential for timely diagnosis, to guide prognosis and family planning as well as provide access to emerging treatment. A tiered diagnostic approach and integration of new genomic technologies can improve outcomes. HUMAN AND ANIMAL RIGHTS: This article does not contain any studies with human or animal subjects performed by any of the authors.
Charts, Calendars, Questionnaires & Intake Forms: Navigating the Options when Caring for Patients with Migraine.
Aderinto N, Nigam-Aggarwal M, Madan S … +1 more , Begasse de Dhaem O
Curr Neurol Neurosci Rep · 2025 Jul · PMID 40728604 · Publisher ↗
PURPOSE OF REVIEW: To describe the different options available to collect clinical data for headache care via intake forms, questionnaires, diary, and electronic health record (EHR) and practical ways to optimize clinic...
PURPOSE OF REVIEW: To describe the different options available to collect clinical data for headache care via intake forms, questionnaires, diary, and electronic health record (EHR) and practical ways to optimize clinic flow and data integration in this era of information overload. RECENT FINDINGS: Digital technologies can be leveraged to help with data integration and processing of information. New technologies and progress with data integration have the potential to help streamline flow and improve healthcare outcomes. The benefits of new technologies must be weighed against potential ethical risks such as widening of healthcare disparities especially for those without English proficiency, technology proficiency, and those without access to internet. Concerns regarding data privacy and the potential commercialization of patient data must be addressed. The optimization of tracking tools, EHR-patient interfaces, and data integration across software is an area of ongoing work.
Status Migrainosus - A Narrative Review.
Mayers M, Wogayehu J, Ailani J
Curr Neurol Neurosci Rep · 2025 Jul · PMID 40715902 · Publisher ↗
PURPOSE OF REVIEW: In this narrative review, we discuss the current literature on status migrainosus (SM) in the context of the definition, epidemiology, management and prognosis. RECENT FINDINGS: SM is associated with a...
PURPOSE OF REVIEW: In this narrative review, we discuss the current literature on status migrainosus (SM) in the context of the definition, epidemiology, management and prognosis. RECENT FINDINGS: SM is associated with a substantial cost burden driven by health care utilization. Individuals with SM have higher rates of ED visits, hospitalizations and progression to chronic migraine. Early treatment and preventative strategies are key aspects of the management of SM. There are a wide variety of medications utilized for the acute treatment of SM. "Bridge strategies" are often employed in an attempt to alleviate refractory pain and prevent a trip to the Emergency Department. It is important that physicians identify patients with SM and prepare them for future attacks, due to the debilitating nature of these episodes and the disease burden. Recent studies highlight the numerous approaches to managing SM. Clinicians should educate their patients about SM as a significant complication of migraine attacks, as well as develop a plan for preventative measures and early treatment of SM.
Blood Pressure Management Pre- and Post-Reperfusion in Acute Ischemic Stroke: Evidence and Insights from Recent Studies.
Liu F, Anderson CS
Curr Neurol Neurosci Rep · 2025 Jul · PMID 40711620 · Full text
PURPOSE OF REVIEW: Effective control of blood pressure (BP) is potentially a critical determinant in making a successful recovery from acute ischemic stroke. BP is often elevated after the onset of this critical illness,...
PURPOSE OF REVIEW: Effective control of blood pressure (BP) is potentially a critical determinant in making a successful recovery from acute ischemic stroke. BP is often elevated after the onset of this critical illness, and it is related to both the severity of the ischemic injury and subsequent changes in cerebral perfusion and collateral blood flow. However, recent studies have challenged longstanding assumptions over the safety and efficacy of BP lowering in being able to reduce the risk of reperfusion injury in acute ischemic stroke. This review synthesizes contemporary evidence and discusses the evolving landscape of BP management in acute ischemic stroke. RECENT FINDINGS: Three prehospital ambulance-initiated trials of early BP lowering in patients with undifferentiated stroke have shown neutral or adverse effects, while the results of multiple trials of in-hospital management BP lowering in patients who have received successful reperfusion therapy for acute ischemic stroke due to large-vessel occlusion highlight the risks of over-aggressive treatment. Despite considerable research effort, the optimal BP management strategy in acute ischemic stroke remains uncertain, although avoiding excessive reductions appears critical.
Selective Visual Attention in ADHD: A Narrative Review.
Klein JL, Allen HA, Clibbens J … +3 more , Cook A, Amanatidou V, Mavritsaki E
Curr Neurol Neurosci Rep · 2025 Jul · PMID 40705195 · Full text
PURPOSE OF REVIEW: Attention-deficit/hyperactivity disorder is a common neurodevelopmental disorder characterized by impairing levels of inattention, hyperactivity and impulsivity that adversely impact functioning across...
PURPOSE OF REVIEW: Attention-deficit/hyperactivity disorder is a common neurodevelopmental disorder characterized by impairing levels of inattention, hyperactivity and impulsivity that adversely impact functioning across social, academic/occupational and home settings. While the name of the disorder implies obvious difficulties in attention, research has struggled to consistently identify a precise neurocognitive marker. This article aims to characterize the functioning of selective visual attention in ADHD by reviewing previous studies that compare individuals with ADHD and healthy controls at the behavioral and neural levels using single-frame visual search tasks. RECENT FINDINGS: Past research indicates both bottom-up (stimulus-driven) and top-down (goal-driven) attention across both time and space are likely affected in ADHD. However, more research is needed to illuminate the specific mechanisms involved. Ultimately, this narrative review aims to highlight the importance of studying selective visual attention in ADHD to explain the heterogeneous symptoms and impairments of this complex disorder, as well as to build a stronger bridge between the high-level behaviors of ADHD and their underlying neurobiological mechanisms.
Pregnancy Outcomes in Epilepsy Patients Treated with Neuromodulating Devices.
Lin L, Li Y
Curr Neurol Neurosci Rep · 2025 Jul · PMID 40689941 · Publisher ↗
PURPOSE OF REVIEW: Neuromodulation provides additional treatment options for patients with drug-resistant epilepsy who are not candidates or unwilling to undergo resective or ablative surgery. However, our current knowle...
PURPOSE OF REVIEW: Neuromodulation provides additional treatment options for patients with drug-resistant epilepsy who are not candidates or unwilling to undergo resective or ablative surgery. However, our current knowledge on the safety and efficacy of different neuromodulating devices during pregnancy is limited. This article reviews recent research on pregnancy outcomes in epilepsy patients treated with vagus nerve stimulation (VNS), deep brain stimulation (DBS), or responsive neurostimulation (RNS). RECENT FINDINGS: Currently available information about pregnancy outcomes in epilepsy patients with neuromodulating devices all comes from cases series or case reports. Randomized control trials or prospective observational studies are lacking in this patient population. The overall sample size is too small to draw conclusions on the safety of these neuromodulating devices in pregnancy and maternal outcomes including obstetric complications. There is no clear sign of device-related teratogenicity. Further research should be directed at establishing a pregnancy registry and conducting multi-center prospective studies to track pregnancy outcomes in epilepsy patients with various neuromodulating devices.
The Gray Zone of Consciousness: Cognitive Motor Dissociation.
Kondziella D
Curr Neurol Neurosci Rep · 2025 Jul · PMID 40679720 · Publisher ↗
PURPOSE OF REVIEW: Covert consciousness, including cognitive motor dissociation (CMD), occurs in clinically unresponsive patients with brain injury who can willfully modulate their brain activity to comply with motor ima...
PURPOSE OF REVIEW: Covert consciousness, including cognitive motor dissociation (CMD), occurs in clinically unresponsive patients with brain injury who can willfully modulate their brain activity to comply with motor imagery commands as revealed by functional magnetic resonance imaging, EEG or other technologies. In 2024, the Curing Coma Campaign conducted a gap analysis of the field of covert consciousness and CMD. This article discusses the achievements that have been made in the field since then. RECENT FINDINGS: Three major recent achievements include epidemiological data that CMD occurs in up to 25% of unresponsive brain injury patients, the development of convenient tools for detecting CMD at the bedside, and CMD as a biomarker of cerebral reserves that may possibly be exploited pharmacologically for prognostication and rehabilitation. Although many questions remain, recent findings have paved the way for the implementation of CMD screening in clinical routine, also in resource-poor settings, for better prognostication after brain injury and possibly for therapeutic purposes.
Approach to Eye Pain: Differential Diagnosis and Work Up for the Neurologist.
Robblee J, Patel JN
Curr Neurol Neurosci Rep · 2025 Jul · PMID 40650838 · Publisher ↗
PURPOSE OF REVIEW: Eye pain is a common but diagnostically complex symptom. The underlying etiologies span neurologic, ophthalmologic, and systemic conditions that range from benign to vision- or life-threatening. This r...
PURPOSE OF REVIEW: Eye pain is a common but diagnostically complex symptom. The underlying etiologies span neurologic, ophthalmologic, and systemic conditions that range from benign to vision- or life-threatening. This review aims to provide a neurologist-oriented approach to the differential diagnosis of eye pain, emphasizing clinical reasoning and red flag identification. RECENT FINDINGS: Ocular inflammation and surface disorders are commonly diagnosed etiologies for eye pain but neurologic disorders including primary headaches may be underrecognized sources of eye pain. Clinical clues like the pain description and location, patterns of visual disturbances, and other associated symptoms can guide diagnosis. Exam clues like optic disc edema, cranial nerve abnormalities, red eye pattern, ocular bruit, and intraocular pressure can guide localization and referral urgency. Integration of targeted history, key physical exam findings, and judicious use of investigations are critical for identifying vision- or life-threatening pathology. Using a focused history with targeted neurologic and ophthalmologic examinations, neurologists will be able to choose appropriate investigations and identify when urgent ophthalmology referral is required. This review outlines a systematic, symptom-based approach to eye pain so that neurologists can identify urgent conditions, improve diagnostic efficiency, and collaborate effectively with ophthalmology.
Rehabilitation Strategies for Sleep and Autonomic Symptoms in Parkinson's Disease.
Kamo H, Nagaki K, Warren L … +3 more , Kraus AR, Okun MS, Wagle Shukla A
Curr Neurol Neurosci Rep · 2025 Jul · PMID 40627203 · Full text
PURPOSE OF REVIEW: To evaluate the effectiveness of rehabilitation therapies for managing symptoms of sleep and autonomic dysfunction (cardiovascular, gastrointestinal, urinary and sexual) in Parkinson's disease (PD). Th...
PURPOSE OF REVIEW: To evaluate the effectiveness of rehabilitation therapies for managing symptoms of sleep and autonomic dysfunction (cardiovascular, gastrointestinal, urinary and sexual) in Parkinson's disease (PD). The narrative review focuses on recent data drawn from clinical trials, particularly randomized controlled trials, to assess these therapies and the overall quality of the evidence. RECENT FINDINGS: Resistance training and aerobic exercises can improve sleep quality in PD. Resistance and aerobic exercises, along with abdominal binders, may help alleviate orthostatic hypotension, though the quality of evidence is not high. Interventions such as expiratory muscle strength training, sensorimotor training, and video-assisted swallowing therapy are beneficial for dysphagia. Pelvic floor muscle training combined with behavioral therapy can potentially mitigate urgency and urge incontinence. Many rehab-based strategies though promising lack sufficient evidence for implementation into clinical practice. The current evidence supports their role in addressing sleep disturbances, orthostatic hypotension and dysphagia. However, the evidence for their effectiveness in treating gastroparesis, constipation, and urinary and sexual dysfunction remains limited.
Cerebrovascular and Peripheral Vascular Complications in Cancer Patients.
Rousseau J, Wen PY
Curr Neurol Neurosci Rep · 2025 Jul · PMID 40591095 · Publisher ↗
PURPOSE OF THIS REVIEW: This review explores the complex relationship between cancer and vascular disease. It aims to synthesize current evidence on the epidemiology, mechanisms, management, and outcomes of ischemic stro...
PURPOSE OF THIS REVIEW: This review explores the complex relationship between cancer and vascular disease. It aims to synthesize current evidence on the epidemiology, mechanisms, management, and outcomes of ischemic stroke, cerebral venous sinus thrombosis (CVST), venous thromboembolism (VTE) in brain tumor patients, and intracranial hemorrhage (ICH), while highlighting the cerebrovascular risks of systemic cancer therapies. RECENT FINDINGS: Recent studies reveal that cancer patients are at increased risk for ischemic stroke, often from cancer-specific mechanisms such as hypercoagulability, non-bacterial thrombotic endocarditis, and tumor embolism. VTE is increasingly recognized in patients with primary brain tumors. Emerging data support the safety of direct oral anticoagulants over low-molecular weight heparin in selected patients with brain tumors. Cancer treatments-including immune checkpoint inhibitors (ICIs), hormonal therapies, and radiation-contribute to cerebrovascular risk. Vascular complications are underrecognized yet significant contributors to morbidity and mortality in cancer patients. Multidisciplinary strategies, personalized risk stratification, and targeted research are critical to improving outcomes in this vulnerable population.
Uncommon Non-MS Demyelinating Disorders of the Central Nervous System.
Mukherjee A, Roy D, Chakravarty A
Curr Neurol Neurosci Rep · 2025 Jul · PMID 40591029 · Publisher ↗
PURPOSE OF REVIEW: Definitive diagnosis of multiple sclerosis (MS) requires exclusion of other central nervous system (CNS) disorders sharing similar clinical, pathological and radiological features. In this review we di...
PURPOSE OF REVIEW: Definitive diagnosis of multiple sclerosis (MS) requires exclusion of other central nervous system (CNS) disorders sharing similar clinical, pathological and radiological features. In this review we discuss some relatively uncommon disorders with special emphasis on their differentiation from MS clinically and radiologically. While most conditions have a demyelinating pathology, a few very important mimics may have a non-demyelinating pathology to merit some discussion. RECENT FINDINGS: Two major areas of diagnostic advances have been made in recent times, the recognition of neuromyelitis optica spectrum disorder (NMOSD), and the myelin oligodendrocyte antibody mediated disorder (MOGAD). These two entities are mediated by completely different antibodies detectable in peripheral blood samples by enzyme-linked immunosorbent assay (ELISA) or cell-based assays and produce clinical disorders could be differentiated from MS by their clinical features, disease course, prognosis, and imaging features. NMOSD is a rare CNS autoimmune disease that predominantly targets the spinal cord, optic nerves and brainstem. In sixty to eighty% of cases of NMOSD, optic neuritis (ON) and/or longitudinally extensive transverse myelitis (LETM) result in blindness and paralysis. In NMOSD these are associated with a serological antibody to aquaporin-4 (AQP4). AQP4 is a water channel protein found in many organs, but in the CNS, AQP4 is expressed in a perivascular distribution on astrocytic foot processes around blood vessels and the glia limitans (glymphatic). Comparative studies of AQP4-seropositive and AQP4- seronegative NMOSD cohorts note that some of the seronegative NMOSD cases tend to differ from the seropositive cases in several aspects: bilateral optic neuritis, simultaneous optic neuritis and transverse myelitis, younger age at onset, and an apparently monophasic course. This prompted search for putative antibodies other than AQP4. MOG antibody disease is a CNS autoimmune disease associated with a serological antibody against myelin oligodendrocyte glycoprotein (MDG). MOG is a glycoprotein expressed on the outer membrane of myelin and solely found within the CNS, including the brain, optic nerves and spinal cord. Clinically, the disease resembles NMOSD in its predilection for relapses of optic neuritis and transverse myelitis. In addition, acute disseminated encephalomyelitis (ADEM) is a well-recognized phenotype of MOG antibody disease in children. About 42% of NMOSD patients who test seronegative for the AQP4 antibody test positive for MOG antibodies. MOG antibody disease has thus recently emerged as a distinct entity in a sizable portion of the patient population diagnosed with NMOSD or even MS. The second field where significant progress has been made is the recently modified McDonald criteria proposed at the ECTRIMS (European Committee (2024) for Treatment and Research in Multiple Sclerosis) which includes three new features - the central vein sign (CVS) and the paramagnetic ring lesions (PRL), along with CSF kappa free light chains (kFLC). The CVS refers to a blood vessel in the middle of MS lesions, visible on MRI. The PRL refers to rings of iron around the edges of active MS lesions, also detectable by MRI. Lastly, kFLC are molecules produced by white blood cells, now considered a diagnostic biomarker equivalent to CSF oligoclonal bands. This new criterion refines doing an MRI mandatory for making a diagnosis of MS. The list of non-MS demyelinating disorders of the CNS is vast. Most of the conditions are immunologically mediated. In the present review, diagnosis and management of NMOSD and MOGAD are discussed, along with a brief discussion on ADEM. Stress has been given also to some rarer conditions like antiphospholipid syndrome, Behcet disease, chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS), and Susac syndrome, which can mimic MS. The auto inflammatory syndromes, a newly described group of conditions, which are being increasingly recognized as conditions which can cause systemic as well as neurological disease, are briefly discussed. There is aberrant activation of the innate immune system, as against autoimmune diseases where the adaptive immune system is involved. Non-immune mediated conditions can also cause or mimic demyelination. The causes include drugs, toxins, infections, and neoplastic conditions. CNS lymphomas, both primary and secondary, may mimic MS plaques. Infections including bacterial, viral and parasitic, may also produce white matter signal abnormalities mimicking MS. COVID 19 related CNS lesions and PML are also discussed. The ready availability of genetic testing, including whole exome sequencing, have resulted in expansion of the phenotypic spectrum of leukodystrophies, and in some cases of atypical MS the diagnosis is being revised to some form of leukodystrophy. The types of leukodystrophy which can mimic MS have been discussed. Longitudinally extensive spinal cord lesions (LECL) can occur in demyelinating (LETM) as well as other conditions, and are extremely important to differentiate from each other, so that appropriate management can be provided. Lastly commonly encountered vascular lesions like lacunes resulting from lipohyalinosis may also mimic MS plaques and in this category more extensive lesion like in CADASIL, an autosomal dominant disorder with a specific genetic marker, needs differentiation.
Intracranial Recordings in Epilepsy: an Approach to Understanding the Neural Mechanisms of Social Cognition.
Davis KE, Kana RK, Szaflarski JP
Curr Neurol Neurosci Rep · 2025 Jun · PMID 40580385 · Full text
PURPOSE OF REVIEW: Social cognition, especially theory of mind (ToM), is often impaired in clinical populations including epilepsy, with serious consequences for quality of life. This review synthesizes evidence from cli...
PURPOSE OF REVIEW: Social cognition, especially theory of mind (ToM), is often impaired in clinical populations including epilepsy, with serious consequences for quality of life. This review synthesizes evidence from clinical assessments, neuroimaging, and intracranial recording techniques to examine how social cognitive processes are represented in the human brain and how they may be disrupted in epilepsy. Emphasis is placed on the emerging contributions of intracranial electroencephalography (iEEG) and intracranial electrical stimulation (iES) to this field. RECENT FINDINGS: While the literature using iEEG/iES to investigate social cognition remains limited, recent studies have begun to map the spatiotemporal and causal underpinnings of ToM and related functions. This work complements behavioral and fMRI findings and suggests avenues for translational research. Intracranial techniques represent a promising tool for advancing social cognitive neuroscience. Integrating this approach with clinical data and established behavioral paradigms can enhance our understanding of social cognition and improve care for populations with focal epilepsy.
Update on paraproteinemic neuropathy.
Traub R, Rubinstein SM, Dittus C
Curr Neurol Neurosci Rep · 2025 Jun · PMID 40549225 · Publisher ↗
PURPOSE OF REVIEW: This article reviews recent clinical updates and research on the evaluation and management of patients with peripheral neuropathy in association with monoclonal gammopathies. RECENT FINDINGS: Recent st...
PURPOSE OF REVIEW: This article reviews recent clinical updates and research on the evaluation and management of patients with peripheral neuropathy in association with monoclonal gammopathies. RECENT FINDINGS: Recent studies have elucidated pathogenic mechanisms of IgM paraprotein associated neuropathies, including nodal and paranodal targets and complement mediated processes, suggesting novel therapeutic targets. New chemotherapeutic regimens have improved outcomes and neurotoxic side effect profiles in the treatment of patients with light chain (AL) amyloidosis and POEMS syndrome. Establishing when a monoclonal gammopathy is causative of a peripheral neuropathy remains a clinical challenge. New therapeutic drugs for treatment of IgM paraprotein associated neuropathies show promise. Identifying AL amyloidosis and POEMS early in patients presenting with neuropathy are important. Clinical phenotyping and antibody testing are critical to evaluating patients with paraproteins and peripheral neuropathy.
Recent Advances in Diagnosis, Management, Treatment, and Prevention of Neuropathies in Cancer Patients.
Rhee JY, Paulino MT, Finnemore A … +2 more , Tentor Z, Cashman C
Curr Neurol Neurosci Rep · 2025 Jun · PMID 40540116 · Publisher ↗
PURPOSE OF REVIEW: The purpose of this article is to provide an update on cancer-related neuropathies over the past five years, by reviewing the advances in pathophysiology and biology, diagnostic approaches, and managem...
PURPOSE OF REVIEW: The purpose of this article is to provide an update on cancer-related neuropathies over the past five years, by reviewing the advances in pathophysiology and biology, diagnostic approaches, and management strategies. RECENT FINDINGS: New agents causing peripheral neuropathy include antibody-drug conjugates, combinations of immune-checkpoint inhibitor therapies, and targeted therapies. Development of axonal neuropathies has been found to be mediated through the protein sterile-α and Toll/interleukin 1 receptor motif containing protein 1 (SARM1). There have been emerging imaging modalities such as high-field MRI and neuromuscular ultrasound, and serum biomarkers, such as neurofilament light chain and glial fibrillary acid protein. Though calmangafodipir was negative for preventing peripheral neuropathy in oxaliplatin-based treatments, the POLAR trial randomizing patients to cooling or compression of the dominant hand during taxane administration significantly reduced incidence of chemotherapy-induced peripheral neuropathy. As of yet, there are no treatments for chemotherapy-induced peripheral neuropathy, but continued basic research into the SARM pathway is likely to yield novel agents that will stop, or prevent, the process.
Virus Against Cancer: Paradigm-Shifting Biological Concepts.
Shin DH, Alonso MM, Gomez-Manzano C … +1 more , Fueyo J
Curr Neurol Neurosci Rep · 2025 Jun · PMID 40515944 · Publisher ↗
PURPOSE OF REVIEW: Virotherapy has emerged as a promising approach to cancer treatment. Over the past two decades, early-phase clinical trials have demonstrated the safety and promising efficacy of virotherapy in subsets...
PURPOSE OF REVIEW: Virotherapy has emerged as a promising approach to cancer treatment. Over the past two decades, early-phase clinical trials have demonstrated the safety and promising efficacy of virotherapy in subsets of cancer patients. However, a significant knowledge gap needs to be filled to propel the field further and achieve substantial anti-cancer benefits for more than the current 10-20% of treated patients. This article reviews the most relevant current challenges in cancer virotherapy. RECENT FINDINGS: Recent clinical observations suggest that patients who respond to virotherapy experience a shift in their immune response from an initial or concomitant response against the virus toward the tumor. Strategies aimed at facilitating the temporary escape of the virus from the immune response and ultimately redirecting the immune response from the virus to the tumor may propel the development of cancer viroimmunotherapy as a potent and versatile approach to cancer treatment. Here, we examine this issue and other current challenges in cancer virotherapy.
Pitfalls in the Diagnosis of Wilson Disease.
Roy D, Mukherjee A, Chakravarty A
Curr Neurol Neurosci Rep · 2025 Jun · PMID 40504409 · Publisher ↗
PURPOSE OF REVIEW: Wilson disease (WD), an uncommon autosomal recessive (AR) hereditary disorder characterized by abnormal accumulation of copper primarily in the liver and secondarily in other organs like the brain, is...
PURPOSE OF REVIEW: Wilson disease (WD), an uncommon autosomal recessive (AR) hereditary disorder characterized by abnormal accumulation of copper primarily in the liver and secondarily in other organs like the brain, is caused by a deficiency in the ATP7B transporter gene. The key to successful therapy is early diagnosis. RECENT FINDINGS: Mutant genes need to be inherited from both parents for phenotypic expression. The ATP7B gene located on chromosome 13q14.3 comprises 20 introns and 21 exons, encodes a protein of 165 amino acids, and this helps in incorporation of copper into ceruloplasmin, the copper binding protein. So far, more than 800 mutations have been reported, of which 380 have confirmed involvement in the pathogenesis of WD. The most common mutations are H1069Q and R778L in European and Asian populations respectively. Approximately 90%-98% of WD subjects are heterozygous, showing different mutations in each of the alleles encoding the ATP7B. Conversely, the phenotype and the penetrance of WD can be extremely variable. Even patients carrying two disease-causing mutations do not necessarily have a demonstrable alteration of copper metabolism. Considering the possibility of late-onset disease, asymptomatic cases, and phenotypic variability, it is crucial to evaluate previous and future generations of the index case. WD ranges from being asymptomatic in some patients to result in acute liver failure and/or a variety of neuropsychiatric disorders among others. Although WD may be present at any age, is more common between the ages of 5 and 35 years. However, it should be investigated in patients with liver failure of unknown cause and those with liver disease associated with neuropsychiatric symptomatology. Diagnosis requires a combination of clinical signs and symptoms, as well as relevant diagnostic tests such as measurement of serum ceruloplasmin, urinary excretion of copper, liver biopsy or genetic testing. Treatment is lifelong and includes chelating agents (penicillamine and trientine) and inhibitors of copper absorption (zinc salts). Liver transplant is an option for patients with end-stage liver disease. The key to successful therapy is early diagnosis.
Neurology of Androgens and Androgenic Supplements.
Dengri C, Mayberry W, Koriesh A … +1 more , Nouh A
Curr Neurol Neurosci Rep · 2025 Jun · PMID 40459673 · Full text
PURPOSE OF REVIEW: This article explores the intricate relationship between androgens, androgen receptors, and the central nervous system. We examine the role of physiologically derived androgens and androgenic supplemen...
PURPOSE OF REVIEW: This article explores the intricate relationship between androgens, androgen receptors, and the central nervous system. We examine the role of physiologically derived androgens and androgenic supplements in neurodevelopment and neuroplasticity and delve into the involvement of androgen pathways in the pathogenesis of various neurological disorders. RECENT FINDINGS: This review highlights the increasing recognition of testosterone and androgen signaling in various neurological conditions, with evidence of both protective and harmful effects depending on dosage and context. Although limited to experimental use, testosterone replacement therapy (TRT) may serve potential benefits in the management of multiple sclerosis, epilepsy, headache, Duchenne muscular dystrophy, amyotrophic lateral sclerosis, and Parkinson disease. On the other hand, androgen-blocking treatments may help alter disease progression in spinal and bulbar muscular atrophy. Testosterone supplementation can have potential adverse events when used at a supratherapeutic level, and prenatal testosterone exposure is believed to contribute to the pathogenesis of neurodevelopmental disease. Additionally, androgen-blocking agents could increase the risk of neurodegenerative conditions, such as Parkinson disease and Alzheimer disease. Despite the above findings, there is no established indication of TRT or androgen-blocking medication in neurological disorders. The body of evidence highlighting the involvement of androgens and androgen receptors (ARs) in pathogenesis of neurological diseases is growing. This includes ongoing research exploring the potential therapeutic targets involving the androgen signaling pathway for management of neurological disorders. Future placebo-controlled clinical trials are essential to determine the efficacy and safety of TRT or androgen-blocking therapies in managing neurological disease.
Systemic Comorbidities as Modifiers of Outcome After Endovascular Thrombectomy for Acute Ischemic Stroke.
Bond BJ
Curr Neurol Neurosci Rep · 2025 May · PMID 40442497 · Publisher ↗
PURPOSE OF REVIEW: To evaluate the impact of systemic comorbidities on outcomes following endovascular thrombectomy (EVT) for acute ischemic stroke. RECENT FINDINGS: Although EVT achieves high rates of large-vessel reper...
PURPOSE OF REVIEW: To evaluate the impact of systemic comorbidities on outcomes following endovascular thrombectomy (EVT) for acute ischemic stroke. RECENT FINDINGS: Although EVT achieves high rates of large-vessel reperfusion, clinical outcomes are significantly influenced by underlying comorbidities. Chronic hypertension impairs collateral circulation and increases the risk of cerebral edema and mortality. Diabetes mellitus is associated with reduced functional recovery and heightened hemorrhagic risk. Atrial fibrillation often leads to larger infarcts and contributes to higher unadjusted mortality. Chronic kidney disease, particularly in patients with dialysis dependence, predicts poor neurological outcomes and increased procedural complications. Active malignancy substantially elevates mortality, especially in patients with metastatic disease. Systemic comorbidities are important modifiers of outcome after EVT. While technical success rates routinely exceed 80-90%, functional recovery and survival vary significantly across patient subgroups. Meta-analyses and registry data highlight that comorbidities independently increase the risk of futile recanalization, complications, and mortality. EVT remains appropriate for medically complex patients, but optimal results require comorbidity-informed risk stratification and multidisciplinary, goal-concordant care.
The Role of Diabetes and SGLT2 Inhibitors in Cerebrovascular Diseases.
Moustafa B, Trifan G
Curr Neurol Neurosci Rep · 2025 May · PMID 40411658 · Publisher ↗
PURPOSE OF REVIEW: Diabetes is a well-established risk factor for stroke. Understanding the pathophysiology of this connection is crucial to implementing appropriate prevention strategies. Lately, there has been a paradi...
PURPOSE OF REVIEW: Diabetes is a well-established risk factor for stroke. Understanding the pathophysiology of this connection is crucial to implementing appropriate prevention strategies. Lately, there has been a paradigm shift in the care of individuals with diabetes toward the use of glucose-lowering medications with potential cardiovascular, cerebrovascular or cardiorenal benefits. The aim of this article is to provide a critical analysis of the role of diabetes in cerebrovascular disease and current evidence and recommendations for the use of glucose-lowering medication with particular focus on the sodium glucose cotransporter-2 inhibitor (SGLT2i) class. RECENT FINDINGS: Intensive glycemic control in individuals with diabetes reduces the risk of microvascular complications, but there is less clear evidence for decreasing risk of macrovascular events (e.g., stroke). A multifaceted management of diabetes addressing healthy lifestyle practices, glycemic control, and optimization of other cardiovascular risk factors is highly recommended. SGLT2i are the latest class of antihyperglycemic agents available for diabetes management. Canagliflozin and empagliflozin are associated with reduction in major adverse cardiovascular events (MACE). Dapagliflozin did not reduce the rate of MACE but is associated with reduction in heart-failure related death and hospitalization and has the potential to decrease dementia risk. Ertugliflozin decreases rates of hospitalization related to heart failure however it was non-inferior to placebo in reducing MACE. There is increasing evidence that the use of SGLT2i may reduce the risk of stroke, particularly hemorrhagic stroke, in individuals with type 2 diabetes and a high risk of cardiovascular events, and that SGLT2i may also be beneficial for brain health by decreasing risk of cognitive decline and dementia. Antihyperglycemic therapy should be tailored to patients' circumstances. SGLT2i treatment should be considered in patients with type 2 diabetes and established or high-risk cardiovascular disease, heart failure, or chronic kidney disease, to reduce the overall cerebro-cardiovascular and renal risks.
Emerging Treatments for Obesity: the Role of GLP1 Receptor Agonists on Stroke.
Mariscal M, Testai FD
Curr Neurol Neurosci Rep · 2025 May · PMID 40397216 · Full text
PURPOSE: Stroke is a leading cause of disability and mortality worldwide. It has been estimated that more than 90% of the risk of stroke is associated with modifiable factors, including diabetes, hypertension, obesity, a...
PURPOSE: Stroke is a leading cause of disability and mortality worldwide. It has been estimated that more than 90% of the risk of stroke is associated with modifiable factors, including diabetes, hypertension, obesity, and heart disease. Glucagon-like peptide 1 receptor agonists (GLP1RAs) have been shown to have a beneficial effect on these major risk factors. In this review, we discuss the evidence supporting the use of GLP1RAs on brain health, particularly in relation to stroke prevention. RECENT FINDINGS: The results of multiple randomized clinical trials demonstrate that, among patients with type 2 diabetes, GLP1RAs reduce body weight and improve glucose levels and lipid metabolism. In high-risk populations, GLP1RAs also reduce the risk of major adverse cardiovascular events, including all stroke and non-fatal stroke. Mechanistically, GLP1RAs have a beneficial effect on different stroke risk factors, support microvascular function, and reduce inflammation and oxidative stress. GLP1RAs are recommended for the primary prevention of stroke in patients with diabetes and elevated cardiovascular risk.
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