Influence of dietary patterns in the pathophysiology of Huntington's Disease: A literature review.

Huntington's disease (HD), a rare autosomal dominant neurodegenerative disease, causes the gradual deterioration of neurons in the basal ganglia, specifically in the striatum. HD displays a wide range of symptoms, from motor disturbances such as chorea, dystonia, and bradykinesia to more debilitating symptoms such as cognitive decline, behavioral abnormalities, and psychiatric disturbances. Current research suggests the potential use of dietary interventions as viable strategies for slowing the progression of HD. Most notably, the Mediterranean, vegan, carnivore, paleo, and ketogenic diets have gained attention due to their hypothesized impact on neuroprotection and symptomatic modulation in various neurodegenerative disorders. Despite substantial nutritional differences among these diets, they share a fundamental premise-that dietary factors have an influential impact in modifying pertinent biological pathways linked to neurodegeneration. Understanding the intricate interactions between these dietary regimens and HD pathogenesis could open avenues for personalized interventions tailored to the individual's specific needs and genetic background. Ultimately, elucidating the multifaceted effects of these diets on HD offers a promising framework for developing comprehensive therapeutic approaches that integrate dietary strategies with conventional treatments.

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.

Stroke Secondary to Air Embolism Following Laparoscopic Nissen Fundoplication.

An air embolism is characterized by the entry of gas bubbles into the circulatory system, which can lead to the possible occlusion of blood vessels, posing a potentially life-threatening risk. While commonly associated with lung trauma or decompression sickness, it can also result from medical procedures such as central venous catheter insertion or, in our case, gas insufflation for laparoscopic surgery. We present the case of a 65-year-old female who suffered from a stroke secondary to an air embolism after undergoing a laparoscopic Nissen fundoplication in which carbon dioxide insufflation of the abdominal cavity was utilized. We also will discuss the elusive etiology of this complication as well as diagnosis, treatment, and proposed preventative measures.  A 65-year-old female with gastroesophageal reflux disease and a hiatal hernia elected to undergo a laparoscopic Nissen fundoplication for hernia repair. After a successful surgery, the patient was found with significant neurological deficits, including left-sided hemiplegia, numbness in the left hand, hemianopsia, dysarthria, and a National Institutes of Health Stroke Scale score of 20. CT head imaging revealed several low-density foci in the right frontal lobe, while CT neck and chest imaging revealed subcutaneous emphysema and pneumomediastinum. Subsequent labs were significant for an elevated lactate at 7.6 mmol/L. MRI of the brain depicted evidence of an acute infarct in the right frontal lobe with diffusion-weighted imaging (DWI) sequences. The imaging results were correlated with the patient's clinical presentation to establish the diagnosis of a nondominant hemisphere stroke, localized to an anterior branch of the right middle cerebral artery (MCA). After intubation and supportive treatment for three days, the patient was extubated and able to follow commands but had left facial weakness and diminished strength in the left upper and lower extremities. At the two-month follow-up visit, the patient no longer had any focal neurological deficits. Air emboli, though very rare, can occur as a complication in laparoscopic surgeries that utilize CO2 for body cavity insufflation. Patients may be asymptomatic with small, self-limiting emboli, while others may exhibit pulmonary symptoms, cardiac arrest, or focal neurologic changes, depending on the emoji's size and location. Given the wide range of patient presentations, the elevated mortality of laparoscopic procedures complicated by air emboli, and the rare occurrence of focal neurological symptoms as depicted in this case, rapid diagnosis and close postoperative observation and treatment are vital for both short-term and long-term patient outcomes.

Anterolateral Thoracic Myelomeningocele With Split Cord Malformation.

We present a case of a two-year-old male with a history of congenital scoliosis and anterolateral thoracic meningocele. He was able to walk and run, but his parents reported left leg weakness and a frequent cough. The patient had normal neurological examination findings. Magnetic resonance imaging (MRI) of the spine without contrast showed left convex upper thoracic congenital scoliosis and rightward anterolateral meningocele inferiorly to T3, with the spinal cord tethered at this location. Neurosurgical cord detethering and repair of the meningocele were performed simultaneously with scoliosis repair by orthopedics. During the dissection of the meningocele, the bulging neural tissue was found to be a split cord ending in a blind stump. The split cord was determined to be nonfunctional via Prass probe (Medtronic, Minneapolis, MN) stimulation and was subsequently dissected. Detethering of the spinal cord was followed by repair of the dural outpouching and dural closure. The patient was stable post-surgery, but long-term results remain to be seen.

An Unusual Case of LGI1 (Leucine-Rich Glioma-Inactivated Protein 1) Limbic Encephalitis With Anti-acetylcholine Receptor and Anti-striational Autoantibodies.

Autoimmune encephalitis (AE) results from immune-mediated damage to the central nervous system (CNS) with varying clinical manifestations depending on autoimmune antibodies present and the antigens they target. Leucine-rich glioma-inactivated protein 1 (LGI1) has been recognized as one of the leading causes of limbic encephalitis (LE), presenting with seizures, memory loss, and faciobrachial dystonic seizures. A better understanding of the unique presentations of these AE allows for quick and effective diagnosis and treatment. We are presenting a very unusual case of LGI1 autoimmune LE with two additional autoantibodies, anti-acetylcholine receptor (AChR) and anti-striational, in a patient with an underlying thymoma. We will discuss the pathophysiology and common clinical presentation of anti-LGI1 autoimmune LE.

Cryptogenic Pontine Abscess Treated With Stereotactic Aspiration: A Case Report.

Brainstem abscesses are localized collections of pus or infected material within the brainstem, which can cause inflammation, tissue damage, and compression of adjacent structures. This can lead to a variety of symptoms, including headache, fever, and focal neurological deficits, among many others. Brainstem abscesses are potentially life-threatening and considered to be rare, and pontine abscesses are even rarer. Both are often caused by the spread of infection from nearby structures like the middle ear, sinuses, and mastoid air cells, but they can also result from distant infectious sites that have spread to the bloodstream. Ambiguous clinical presentation can delay appropriate care and lead to poorer outcomes. We present a rare case of pontine abscess in a 54-year-old male with both undetermined causal origins and unclear infectious signs, namely, the lack of fever, fatigue, and chills. We will discuss the etiologies, diagnosis, and treatment of cryptogenic brainstem lesions in this case report.

The Development of Neurological Damage in a Patient With Thrombotic Thrombocytopenic Purpura and Legionnaires' Disease: A Case Report.

This case report aims to highlight a rare and severe presentation of Legionnaires' disease complicated by thrombotic thrombocytopenic purpura (TPP). The patient, a 75-year-old male with a history of COVID-19 infection, presented with bilateral pneumonia positive for Legionella pneumophila. He developed signs of TTP, cerebral hemorrhage, and renal failure. Despite treatment, the patient's condition deteriorated, leading to flaccid paralysis, absent reflexes, and multiple brain hemorrhages. This case suggests a potential autoimmune mechanism for the neurological symptoms seen in this combination of Legionnaires' disease and TTP. Thus, it would be worthwhile to further investigate and understand the relationship between these two conditions. Further research into underlying mechanisms will contribute to improving therapeutic approaches for this rare presentation. Additionally, the patient's previous COVID-19 infection could have contributed to thrombotic complications due to its association with respiratory infections, warranting further investigation.

A rare case of basilar artery dissection.

This case describes a 30-year-old Hispanic male who presented with a significant headache that started after a period of weightlifting and squatting. The patient was diagnosed with a basilar artery dissection. His only complaint was a headache that was exacerbated with exertion and sexual activity; there were no neurologic deficits. The diagnosis of basilar artery dissection was established and supported by findings on the CT angiogram of his head and neck. Basilar artery dissections are rarely seen, as they are likely underrecognized due to their varying clinical presentations; however, it is important to consider these phenomena due to the risk of progression and high morbidity rates.

Co-occurrence of Anti-GAD65 Syndrome, Type 1 Diabetes Mellitus, and Focal Seizures With Impaired Awareness.

Glutamic acid decarboxylase (GAD) is an intracellular enzyme found in the presynaptic end of nerve terminals that functions to synthesize ​​gamma-aminobutyric acid (GABA) via decarboxylation. Autoantibodies to the GAD65 isoform have been found in high levels in neurological disorders including stiff person syndrome (SPS), autoimmune encephalitis, and refractory epilepsy. Low levels of anti-GAD65 have also been noted in type 1 diabetes mellitus. We present the unusual case of a woman with a longstanding history of focal seizures with impaired awareness and type 1 diabetes mellitus who was found to have extremely high titers of anti-GAD65 and clinical presentation suggestive of stiff person syndrome. This case highlights the increasing significance of autoimmune etiologies within neurologic disorders, as well as the importance of maintaining a high index of suspicion for rare anti-GAD65 syndromes. Although uncommon and with an unclear pathophysiology, we discuss the importance of establishing SPS diagnostic criteria to facilitate timely diagnosis and quickly direct patient management towards immunotherapy.

Pathogenesis of cerebral amyloid angiopathy caused by chaotic glymphatics-Mini-review.

Cerebral amyloid angiopathy (CAA) is a common cause of lobar intracerebral hemorrhage in the elderly. It is also associated pathologically with Alzheimer's disease (AD). Both CAA and AD share similar pathology of deposition amyloid beta fibrils (Aß). Aß is deposited mainly in the neurites in AD and vascular walls in CAA. Aß is formed inside the brain parenchyma from the amyloid precursor protein. It is easier to understand how Aß is deposited in the cerebral neurites in AD. However, the pathogenesis of CAA is still largely unknown. It is difficult to understand or visualize how Aß fibrils formed inside the brain can be deposited against the cerebral perfusion pressure to be deposited in the cerebral and meningeal arterial walls. We encountered an unusual clinical case of acute aneurysmal subarachnoid hemorrhage which was followed after a few years with localized CAA involving mainly the sites of the subarachnoid hemorrhage. We reviewed the formation of Aß and postulated how the Aß fibrils are transported retrogradely toward the cerebral arteries and deposited in the arterial walls resulting in the final pathology of CAA. There is a clear disturbance of the glymphatic system, the aquaporin-4 channel, and the parenchymal border macrophages.

Isolated Hypoglossal Nerve Palsy Secondary to Oligosecretory Multiple Myeloma.

Isolated hypoglossal nerve (CN XII) palsy is rare. Neurological complications of multiple myeloma (MM) are quite common, most often due to hyperviscosity and paraprotein-related neuropathy. Direct compression of CN XII can be caused by plasmacytoma, yet direct invasion by MM is extremely rare. We are reporting a very unusual case of a 45-year-old man who presented with an isolated right CN XII palsy. The cause revealed by MRI is stenosis of the hypoglossal canal resulting from lytic bony erosion. Despite negative serum and urine protein electrophoresis tests, the final diagnosis of oligosecretory MM was confirmed by serum-free light chain test and bone marrow biopsy. The causes and diagnosis of isolated XII nerve palsy and oligosecretory MM are discussed.

Increased Intracranial Pressure Due to Transverse Sinus Compression by a Meningioma En Plaque.

Idiopathic intracranial hypertension (IIH) is defined as raised intracranial pressure of unknown etiology. Looking for underlying causes needs to be undertaken before the diagnosis is confirmed and managed accordingly. We are reporting a rare and unique case of a patient with the clinical diagnosis of idiopathic intracranial hypertension or pseudotumor cerebri. She is not obese and not taking any predisposing medication. Her first magnetic resonance imaging (MRI) and magnetic resonance venogram (MRV) were reported as showing left transverse sinus thrombosis. She was treated with anticoagulation. Her final diagnosis of left transverse sinus compression by a meningioma en plaque (MEP) was finally made with a repeat MRI. A high index of suspicion of unusual causes is important when IIH presents in an atypical patient or with an atypical presentation. The prognosis and management of real IIH and raised intracranial pressure due to other causes are different.

Exploring dietary approaches in the prevention and management of Amyotrophic Lateral Sclerosis: A literature review.

Amyotrophic lateral sclerosis (ALS) is a fatal and complex neurodegenerative disease of upper and lower motor neurons of the central nervous system. The pathogenesis of this multifaceted disease is unknown. However, diet has emerged as a modifiable risk factor that has neuroprotective effects towards other neurological disorders such as Alzheimer's, Parkinson's and dementia. Thus, this review aims to explore how diet can potentially influence ALS onset and/or progression. In this review, five popular diets (Mediterranean, Vegan, Carnivore, Paleolithic and Ketogenic) and their distinct macromolecule composition, nutritional profile, biochemical pathways and their potential therapeutic effects for ALS are thoroughly examined. However, the composition of these diets varies, and the data is controversial, with conflicting studies on the effectiveness of nutrient intake of several of these diets. Although these five diets show that a higher intake of foods containing anti-inflammatory and antioxidant compounds have a positive correlation towards reducing the oxidative stress of ALS, further research is needed to directly compare the effects of these diets and the mechanisms leading to ALS and its progression.

Role of the UNC13 family in human diseases: A literature review.

This literature review explores the pivotal roles of the Uncoordinated-13 (UNC13) protein family, encompassing UNC13A, UNC13B, UNC13C, and UNC13D, in the pathogenesis of various human diseases. These proteins, which are evolutionarily conserved and crucial for synaptic vesicle priming and exocytosis, have been implicated in a range of disorders, spanning from neurodegenerative diseases like amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) to immune-related conditions such as familial hemophagocytic lymphohistiocytosis (FHL). The involvement of UNC13A in neurotransmitter release and synaptic plasticity is linked to ALS and FTD, with genetic variations affecting disease progression. UNC13B, which is closely related to UNC13A, plays a role in autism spectrum disorders (ASD), epilepsy, and schizophrenia. UNC13C is implicated in oral squamous cell carcinoma (OSCC) and hepatocellular carcinoma (HCC), and has a neuroprotective role in Alzheimer's disease (AD). UNC13D has an essential role in immune cell function, making it a key player in FHL. This review highlights the distinct molecular functions of each UNC13 family member and their implications in disease contexts, shedding light on potential therapeutic strategies and avenues for future research. Understanding these proteins' roles offers new insights into the management and treatment of neurological and immunological disorders.

An Unusual Case of Two Paraneoplastic Neurological Syndromes in a Patient With Lung Cancer.

Paraneoplastic immune-mediated disorders have been well described in the literature. However, it is still relatively rare. The incidence has increased over the past decade due largely to the discovery of more autoantibodies. With a better understanding of the pathophysiology of different autoantibodies and clinical phenotypes, we are often able to diagnose clinically some specific paraneoplastic autoimmune neurological syndromes. We may also predict the response to treatment based on the autoantibody class. We are presenting a very unusual case of two completely different paraneoplastic syndromes with two different autoantibodies, gamma-aminobutyric acid-B (GABAB) and collapsin response mediator protein 5 (CRMP5), in a patient with underlying small-cell lung cancer. We will discuss the differences in the two antibody syndromes, their significance, and their management.

Wernicke's Encephalopathy Presenting With Confusion in a Patient With Schizophrenia.

Wernicke's encephalopathy (WE) is a neuropsychiatric condition caused by thiamine deficiency often associated with alcoholism. Other less common causes include prolonged gastroenterology problems or dietary insufficiencies associated with hyperemesis gravidarum, bariatric surgery, and eating disorders. Prolonged WE without proper treatment can lead to the chronic and irreversible condition, Wernicke-Korsakoff syndrome. Despite being known for its classic triad of clinical symptoms (nystagmus/ophthalmoplegia, gait ataxia, and confusion), WE patients more commonly present with non-specific symptoms of altered mental status. Obscure clinical presentations often led to delays in the appropriate of patients with WE. We are presenting a case of WE that is unusual because the underlying cause is schizophrenia and the lack of alcohol use. For a punctual diagnosis, a high index of suspicion is essential to prevent further exacerbation of neuronal death seen in WE. IV thiamine should be administered to any patient with acute encephalopathy or altered mental status, given its low cost and lack of side effects.

Wound Botulism Caused by Botulinum Neurotoxin Type A in a Chronic Parenteral Drug Abuser.

Botulism is an acute paralytic disease caused by botulinum neurotoxin (BoNT)-mediated inhibition of neurosignaling at the neuromuscular junction. BoNTs are produced by gram positive, anaerobic, spore-forming bacteria from the genus Clostridium,most commonly Clostridium botulinum. Over the last decade, a previously uncommon form of botulism, wound botulism, has increased in prevalence possibly due to the rise in parenteral drug abuse. A 53-year-old patient with a history of drug abuse presents to a rural emergency department with rapidly progressing lower extremity weakness over the past few days. He reports a recent heroin injection into right buttock and diffuse skin-popping scarring was observed throughout. The patient was treated with heptavalent botulinum antitoxin obtained from the Center for Disease Control and Prevention (CDC). A right thigh abscess culture was positive for Clostridium tertium, a left hip abscess culture was positive for methicillin-susceptible Staphylococcus aureus (MSSA), and blood culture confirmed multi-microbial bacteremia caused by Staphylococcus epidermidis and Streptococcus mitis. Serum analysis was positive for BoNT type A from a suspected concurrent Clostridium botulinum infection as C. tertium is not known to produce BoNT type A. This case report highlights the importance of early antitoxin treatment for patients with suspected wound botulism.

Organ reserve, excess metabolic capacity, and aging.

"Organ reserve" refers to the ability of an organ to successfully return to its original physiological state following repeated episodes of stress. Clinical evidence shows that organ reserve correlates with the ability of older adults to cope with an added workload or stress, suggesting a role in the process of aging. Although organ reserve is well documented clinically, it is not clearly defined at the molecular level. Interestingly, several metabolic pathways exhibit excess metabolic capacities (e.g., bioenergetics pathway, antioxidants system, plasticity). These pathways comprise molecular components that have an excess of quantity and/or activity than that required for basic physiological demand in vivo (e.g., mitochondrial complex IV or glycolytic enzymes). We propose that the excess in mtDNA copy number and tandem DNA repeats of telomeres are additional examples of intrinsically embedded structural components that could comprise excess capacity. These excess capacities may grant intermediary metabolism the ability to instantly cope with, or manage, added workload or stress. Therefore, excess metabolic capacities could be viewed as an innate mechanism of adaptability that substantiates organ reserve and contributes to the cellular defense systems. If metabolic excess capacities or organ reserves are impaired or exhausted, the ability of the cell to cope with stress is reduced. Under these circumstances cell senescence, transformation, or death occurs. In this review, we discuss excess metabolic and structural capacities as integrated metabolic pathways in relation to organ reserve and cellular aging.