Respiratory failure as main presentation sign of MAPT-related disorder.

Introduction: The MAPT gene encodes Tau, a protein mainly expressed by neurons. Tau protein plays an important role in cerebral microtubule polymerization and stabilization, in axonal transport and synaptic plasticity. Heterozygous pathogenic variation in MAPT are involved in a spectrum of autosomal dominant neurodegenerative diseases known as taupathies, including Alzheimer's disease, Pick's disease, fronto-temporal dementia, cortico-basal degeneration and progressive supranuclear palsy.

Single and multilevel decompression alone in patients with multilevel lumbar spinal stenosis: a systematic review and meta-analysis.

Multilevel lumbar spinal stenosis (LSS) is a prevalent degenerative condition characterized by lower back pain, intermittent claudication, and radicular leg pain. It ranks as one of the primary indications of spinal surgery in patients aged 65 and older. In this study, we aim to compare single-level and multilevel approaches for decompression alone in LSS considering the incidence of complications, reduction in pain score, and rates of surgical revisions.

Recommendations for mitochondria transfer and transplantation nomenclature and characterization.

Intercellular mitochondria transfer is an evolutionarily conserved process in which one cell delivers some of their mitochondria to another cell in the absence of cell division. This process has diverse functions depending on the cell types involved and physiological or disease context. Although mitochondria transfer was first shown to provide metabolic support to acceptor cells, recent studies have revealed diverse functions of mitochondria transfer, including, but not limited to, the maintenance of mitochondria quality of the donor cell and the regulation of tissue homeostasis and remodelling.

Neurons Are Not All the Same: Diversity in Neuronal Populations and Their Intrinsic Responses to Spinal Cord Injury.

Functional recovery following spinal cord injury will require the regeneration and repair of damaged neuronal pathways. It is well known that the tissue response to injury involves inflammation and the formation of a glial scar at the lesion site, which significantly impairs the capacity for neuronal regeneration and functional recovery. There are initial attempts by both supraspinal and intraspinal neurons to regenerate damaged axons, often influenced by the neighboring tissue pathology.

The confavreux lecture: The radiologically isolated syndrome diagnosis, prognosis and perspectives.

Radiologically isolated syndrome (RIS) is the earliest documented stage in the disease continuum of multiple sclerosis (MS). It is discovered incidentally in individuals who are asymptomatic but have typical lesions in the brain or spinal cord suggestive of autoimmune inflammatory demyelination. The revised 2023 RIS criteria aim to secure an accurate and timely diagnosis due to the presence of imaging mimics.

Impaired Presynaptic Function Contributes Significantly to the Pathology of Glycine Receptor Autoantibodies.

Background And Objectives: Autoantibodies (aAbs) against glycine receptors (GlyRs) are mainly associated with the rare neurologic diseases stiff person syndrome (SPS) and progressive encephalomyelitis with rigidity and myoclonus (PERM). GlyR aAbs are also found in other neurologic diseases such as epilepsy. The aAbs bind to different GlyR α-subunits and, more rarely, also to the GlyR β-subunit.

Effect of Intrathecal Baclofen on Bladder Function in Patients With Severe Supraspinal Spasticity.

Introduction: Neurogenic bladder dysfunction is a prevalent condition characterized by impaired bladder control resulting from neurological conditions, for example, spinal cord injury or traumatic brain injury (TBI). Detrusor overactivity is a typical symptom of central nervous system damage. A lesion affecting the pontine neural network typically results in loss of tonic inhibition exerted by the pontine micturition center and causes involuntary detrusor contractions.

Scoping review of robotics technology in spinal surgery with highlights of the Annual Seattle Science Foundation Course.

Background: Robotic assistance has become increasingly prevalent in spinal surgery in recent years, emerging as a tool to increase accuracy and precision and lower complication rates and radiation exposure. The 7 and 8 Annual Seattle Science Foundation (SSF) Robotics Courses showcased presentations and demonstrations from some of the field's most experiences leaders on latest topics in robotics and spinal surgery, including cutting-edge preoperative planning technologies, augmented reality (AR) in the operating room, cervical fusion with transpedicular screws, and neuro-oncologic management. We provide a scoping review of the use of robotics technology in spinal surgery featuring highlights from the 7 and 8 Annual SSF Robotics Courses.

Impact of bladder management methods and other factors on sexual activity in women with chronic spinal cord injury/disease.

Background: Spinal cord injury/disease (SCI/D) profoundly affects both sexuality and urinary function. Catheterization is often necessary to manage bladder voiding and it can interfere with sexual activity.

Aim: We aim to investigate the effect of the bladder evacuation method on sexual activity in women with chronic SCI/D.

Successful treatment of a C2 aneurysmal bone cyst with hydroxyapatite and calcium sulfate synthetic bone void filler injection: a case report.

Background: Aneurysmal bone cysts (ABCs) are benign, blood-filled neoplasms causing bone destruction, often requiring resection. However, challenges arise, especially at the cranio-cervical junction, where proximity to critical structures limits removal. Non-surgical options include selective arterial embolization (SAE) as main treatment, while Denosumab and centrifugated bone marrow emerge as experimental alternatives.

'The Stegosaurus Appearance' on ultrasound to assist in identifying the correct spinal level for primary lumbar spinal surgery.

Lumbar spinal surgery relies on palpation of anatomical landmarks and X-ray imaging confirmation to identify the correct spinal level, therefore exposing patients and staff to radiation, and increasing intraoperative time and cost. Ultrasound (US) assistance is being used to visualise spinal anatomy by many specialities, such as neurology and anaesthetics, and can be used intraoperatively in selected spinal surgery cases. However, its potential use to check spinal levels prior to surgery remains understudied.

The ins and outs of spinal cord stimulation.

This scientific commentary refers to 'Intraspinal microstimulation of the ventral horn has therapeutically relevant cross-modal effects on nociception', by Bandres . (https://doi.org/10.

Hand dominance shift during sleep in sexsomnia: a clue to pathophysiology?

Study Objectives: To elucidate whether awake handedness in sexsomnia is retained during sleep to uncover potential clues about the underlying neurophysiologic mechanisms.

Methods: Participants' and observers' self-reported handedness during sexsomnia events.

Results: Case 1: A 22 y/o right-handed female with an eight-year history of nocturnal sleep-related masturbatory behavior (SMB) involving the left hand (LH) exclusively.

Prior knowledge changes initial sensory processing in the human spinal cord.

Prior knowledge changes how the brain processes sensory input. Whether knowledge influences initial sensory processing upstream of the brain, in the spinal cord, is unknown. Studying electric potentials recorded invasively and noninvasively from the human spinal cord at millisecond resolution, we find that the cord generates electric potentials at 600 hertz that are modulated by prior knowledge about the time of sensory input, as early as 13 to 16 milliseconds after stimulation.

Clinical presentation, diagnostic investigations and follow-up of a Bengal tiger ( affected by ambulatory tetraparesis.

An 11-year-old male Bengal tiger () was referred for a 2-week history of ambulatory tetraparesis, generalized ataxia, and hypermetric gait, associated with mild right head tilt and spontaneous proprioceptive deficit on the right forelimb. Neuroanatomical localization was C1-C5 myelopathy; cerebellum-vestibular system involvement was also considered. Hematology and serum biochemistry were unremarkable, although serum vitamin A (0.

Navigating the Complexities of Anterior Cord Syndrome in a 71-Year-Old: A Case Study of Vertebral Osteomyelitis and Methicillin-Resistant Staphylococcus aureus Bacteremia.

Anterior cord syndrome is a rare yet critical neurological condition that poses significant challenges in clinical management. We present the case of a 71-year-old male with a medical history of hypertension, uncontrolled type II diabetes mellitus, hypothyroidism, and end-stage renal disease requiring dialysis who presented to the emergency department with complaints of chills, back pain, abdominal pain, and vomiting episodes. Based on the severity of the patient's illness, it was decided that inpatient admission would be best.

Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery.

In the late 1800s, Nikolaus Friedreich first described "degenerative atrophy of the posterior columns of the spinal cord," noting its connection to progressive ataxia, sensory loss, and muscle weakness, now recognized as Friedreich ataxia (FRDA). Renewed interest in the disease in the 1970s and 80s by the Quebec Cooperative Group and by Anita Harding led to the development of clinical diagnostic criteria and insights into associated biochemical abnormalities, although the primary defect remained unknown. In 1988, Susan Chamberlain mapped FRDA's location on chromosome 9.

Motor involvement in frontotemporal lobar degeneration with TAR DNA-binding protein of 43 kDa type C.

The degeneration of pyramidal tracts has been reported in frontotemporal lobar degeneration with TDP-43 (TAR DNA-binding protein 43) pathology (FTLD-TDP) type C. Herein, we examined the detailed pathology of the primary motor area and pyramidal tracts in the central nervous system in four autopsy cases of FTLD-TDP type C, all of which were diagnosed by neuropathological, biochemical, and genomic analyses. Three patients showed right dominant atrophy of the frontal and temporal lobes, while the other patient showed left dominant atrophy.

Clonally expanded, targetable, natural killer-like NKG7 T cells seed the aged spinal cord to disrupt myeloid-dependent wound healing.

Spinal cord injury (SCI) increasingly affects aged individuals, where functional impairment and mortality are highest. However, the aging-dependent mechanisms underpinning tissue damage remain elusive. Here, we find that natural killer-like T (NKLT) cells seed the intact aged human and murine spinal cord and multiply further after injury.

Multiple sclerosis and sickle cell anemia: when two worlds collide.

Background: The coexistence of sickle cell anemia and multiple sclerosis in a single patient presents a rare and challenging clinical scenario, possibly favoured by the interplay between chronic inflammatory states and autoimmune processes.

Methos/results: We present the case of a 36-year-old woman with sickle cell anemia who developed progressive neurological symptoms leading to frequent falls and paraparesis; magnetic resonance imaging showed many periventricular, infratentorial, and both cervical and dorsal spinal cord lesions, leading to a diagnosis of multiple sclerosis. After a multidisciplinary approach the patient was successfully started on ofatumumab.

Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case.

Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other.

Effect of integrated case-based and problem-based learning on clinical thinking skills of assistant general practitioner trainees: a randomized controlled trial.

Background: Case-Based Learning (CBL) and Problem-Based Learning (PBL) are popular methods in medical education. However, we do not fully understand how they affect the clinical thinking skills of Assistant General Practitioner (AGP) trainees. This randomised controlled trial aimed to assess the effectiveness of combining CBL and PBL and compare their impact on the clinical thinking skills of AGP trainees with that of traditional lecture-based learning (LBL).

TIA1-Mediated Stress Granules Promote the Neuroinflammation and Demyelination in Experimental Autoimmune Encephalomyelitis through Upregulating IL-31RA Signaling.

The dysfunction of stress granules (SGs) plays a crucial role in the pathogenesis of various neurological disorders, with T cell intracellular antigen 1 (TIA1) being a key component of SGs. However, the role and mechanism of TIA1-mediated SGs in experimental autoimmune encephalomyelitis (EAE) remain unclear. In this study, upregulation of TIA1, its translocation from the nucleus to the cytoplasm, and co-localization with G3BP1 (a marker of SGs) are observed in the spinal cord neurons of EAE mice.