Anterior Horn Cells Research Articles

Autophagy Is a Common Degradation Pathway for Bunina Bodies and TDP-43 Inclusions in Amyotrophic Lateral Sclerosis

Bunina bodies (BBs) coexisting with TDP-43-immunoreactive (TDP-43-IR) skein-like inclusions (SIs) and round inclusions (RIs) in lower motor neurons are a frequent feature of sporadic amyotrophic lateral sclerosis (sALS). Since previous studies have shown that BBs and TDP-43-IR inclusions are often detected in association with autophagy-related structures (autophagosomes and autolysosomes), we examined the anterior horn cells (AHCs) of the spinal cord from 15 patients with sALS and 6 control subjects, using antibodies against autophagy-related proteins (LC3, cathepsin B, and cathepsin D). Among AHCs with SIs, 43.9% contained BBs, whereas 51.7% of AHCs with RIs did so. The cytoplasm of AHCs showed diffuse immunoreactivity for LC3, cathepsin B and cathepsin D in both sALS and controls. Ultrastructurally, SIs and mature BBs contained autophagosomes and autolysosomes. Mature BBs were localized in the vicinity of SIs. RIs also contained autophagosomes, autolysosomes, and early-stage BBs. These findings suggest that autophagy is a common degradation pathway for BBs and TDP-43-IR inclusions, which may explain their frequent coexistence.

Postherpetic pseudohernia

An elderly male presented with complaints of progressive bulge on the left side of abdomen for last 1 month, associated with burning pain. He also recalled having vesicular lesions over...

Historical setting and neuropathology of lathyrism: Insights from the neglected 1944 report by Oliveras de la Riva

ABSTRACTLathyrism is a central motor system disorder recognized since antiquity resulting from prolonged dietary dependence on the grasspea (Lathyrus sativus). The neuropathology underlying the characteristic spastic paraparesis of lathyrism is sketchy. Described here is a landmark but little-known Spanish-language neuropathological study of two patients with lathyrism of recent onset. Due to erroneous interpretations of Filimonov’s influential work in 1926, it was assumed that spastic paraparesis of lathyrism was explained by destruction of Betz’s pyramidal cells in the motor cortex. Contrary to present understanding, Betz cells and anterior horn cells were preserved, and pathological findings dominated by myelin loss were largely limited to pyramidal tracts in the lumbar cord. Thickening of the adventitia of capillaries and arterioles, together with proliferation of perivascular astrocytes, was found along the length of the spinal cord. Oliveras de la Riva proposed that the segmental spinal pathology arose because distal regions of elongate pyramidal tract axons are distant from their trophic center in the motor cortex, a view not far from the current distal axonopathy concept of lathyrism. In addition, we review the historical circumstances of Filimonov’s work in Russia, a summary of the epidemic of lathyrism in Spain following its Civil War (1936–1939), and some historical aspects of the Cajal Institute in Madrid, where Oliveras de la Riva’s work was carried out under the supervision of Fernando de Castro, one of Cajal’s favorite students.

Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1

<p>Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis, and progressive respiratory insufficiency. We report the case of a 6-year-old girl diagnosed with spinal muscular atrophy type 1 (Werdnig-Hoffman disease) who has been treated at home with non-invasive ventilation (assist-control mode with a back-up respiratory rate of 26 per minute). She presented with an atrioventricular block and atrial fibrillation, as well as paroxysmal fluctuation of blood pressure and heart rate indicating autonomic dysfunction. Although it is known that patients with spinal muscular atrophy type 1 do not generally demonstrate cardiac problems, it can be concluded based on findings in our case that long-term survivors with spinal muscular atrophy type 1 may develop cardiac rhythm disturbances. We therefore recommend that the possibility of cardiac complications and autonomic dysfunction should be borne in mind in the management of such patients.</p>

P.059 Brachial plexus enhancement in acute flaccid myelitis: A novel radiographic finding

Background: Acute flaccid myelitis (AFM) is a condition which causes acute paralysis in pediatric patients. Although awareness of AFM is increasing, the pathophysiology and full spectrum of clinical, biochemical, and radiographic features remain to be fully elucidated. Methods: We report a 5 year-old, previously healthy, male patient who presented with acute right upper extremity weakness following a two day history of fever, cough, and fatigue. The patient underwent extensive inflammatory and infectious workup in addition to MRI imaging of the brain, spinal cord, and bilateral brachial plexuses. Results: Infectious and inflammatory workup did not identify a causative agent. The patient was seen to have bilateral asymmetric (R>L) thickening and enhancement of the anterior horn cells of his cervical (C3-C7) spine, consistent with the spinal grey matter lesions previously described in patients with AFM. Enhancement of the corresponding anterior nerve rootlets and bilateral brachial plexuses was also seen. Conclusions: Patients with acute flaccid myelitis may demonstrate grey matter enhancement extending beyond the spinal cord to the peripheral nerves and plexuses, a radiographic finding which has not previously been published.

Tat-HSP70 protects neurons from oxidative damage in the NSC34 cells and ischemic damage in the ventral horn of rabbit spinal cord

Heat shock protein 70 (HSP70) is an ATP-dependent molecular chaperone, and it has been shown that its levels increase after exposure to various types of stress, including ischemia. In the present study, we investigated the effects of HSP70 against H2O2-induced neuronal stress in NSC34 cells and against spinal cord ischemia in rabbits. Tat-HSP70 proteins facilitated the intracellular delivery of HSP70 into the NSC34 cells and enabled them to cross the blood-brain barrier in the rabbit spinal cord. Tat-HSP70 was effectively transduced into NSC34 cells in a concentration- and time-dependent manner, while control-HSP70 protein could not be delivered intracellularly at any concentration or time after treatment. Treatment with Tat-HSP70 reduced the generation of reactive oxygen species and cell death induced by H2O2, while the control-HSP70 did not show any significant effect on the NSC34 cells exposed to H2O2. In rabbit spinal cord, the administration of Tat-HSP70 showed significant amelioration of neurological defects and neuronal death in the ventral horn of spinal cord. In addition, Tat-HSP70 treatment significantly reduced lipid peroxidation and increased Cu, Zn-superoxide dismutase activities in the spinal cord, but glutathione peroxidase and Mn-superoxide dismutase activities remained unchanged. These results suggest that Tat-HSP70, not control-HSP70, decreases cell damage by reducing oxidative stress in NSC34 cells and rabbit spinal cord, and it can be employed for the reduction of neuronal damage caused after spinal cord ischemia.

Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.

Tay-Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal β-hexosaminidase A deficiency due to mutations in the HEXA gene. The late-onset form of disease (LOTS) is considered rare, and only a limited number of cases have been reported. The clinical course of LOTS differs substantially from classic infantile TSD. Comprehensive data from 14 Czech patients with LOTS were collated, including results of enzyme assays and genetic analyses. 14 patients (9 females, 5 males) with LOTS were diagnosed between 2002 and 2018 in the Czech Republic (a calculated birth prevalence of 1 per 325,175 live births). The median age of first symptoms was 21years (range 10-33years), and the median diagnostic delay was 10.5years (range 0-29years). The main clinical symptoms at the time of manifestation were stammering or slurred speech, proximal weakness of the lower extremities due to anterior horn cell neuronopathy, signs of neo- and paleocerebellar dysfunction and/or psychiatric disorders. Cerebellar atrophy detected through brain MRI was a common finding. Residual enzyme activity was 1.8-4.1% of controls. All patients carried the typical LOTS-associated c.805G>A (p.Gly269Ser) mutation on at least one allele, while a novel point mutation, c.754C>T (p.Arg252Cys) was found in two siblings. LOTS seems to be an underdiagnosed cause of progressive distal motor neuron disease, with variably expressed cerebellar impairment and psychiatric symptomatology in our group of adolescent and adult patients. The enzyme assay of β-hexosaminidase A in serum/plasma is a rapid and reliable tool to verify clinical suspicions.

Acute Flaccid Myelitis Associated With Enterovirus D68: A Review.

Acute flaccid myelitis is a disease that affects the anterior horn cells of the spinal cord, leading to rapid onset of flaccid paralysis. Recent biennial epidemics, beginning in the summer of 2014, have been associated with enterovirus D68, although the underlying pathophysiology is unknown. Patients present with asymmetric flaccid weakness of the extremities, with cranial neuropathy and without encephalopathy, and often have residual disability. Here we review the current literature on this disabling disease and discuss treatment modalities and ongoing research.

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement

EXOSC3-related autosomal recessive neurodevelopmental disorders are rare entities with variable clinical course and prognosis. They are characterized by hypoplasia of cerebellar structures and pons, degeneration of the anterior horn cells and motor as well as neurocognitive impairment. Phenotypic expression is variable with an overall poor outcome. Current research suggests clear genotype-phenotype correlations among EXOSC3-pathogenic-variants carriers. Homozygosity for the EXOSC3 variant c.395A > C, p.(Asp132Ala) is proposed to lead to a rather mild phenotype compared to compound-heterozygous EXOSC3-pathogenic-variants carriers with lethal neurological disease in very early childhood. In this study, we report two siblings (21- and 8-year-old) affected by PCH1B with an unusual presentation. We identified compound heterozygosity for the well-established EXOSC3 variant c.395A > C, p.(Asp132Ala) and the novel variant c.572G > A, p.(Gly191Asp), expanding the genetic spectrum. Phenotypic presentation of the siblings was strikingly different from that of literature reports with a surprisingly mild disease manifestation and an unexpected intrafamilial variability. This study demonstrates the extensive clinical heterogeneity and the broad phenotypic spectrum associated with EXOSC3-associated disorders. Enlargement of sample sizes and reports of novel cases will be essential for the delineation of associated phenotypes.

Amyotrophic Lateral Sclerosis: The Most Common And Lethal Form Of Motor Neuron Disease-a Case Report From Middle East

A neurodegenerative disorder which is fatal, rapidly progressive and has no effective treatment till date is amyotrophic lateral sclerosis. Almost 90% of all cases occur in the sporadic form, with the rest occurring in the familial form. It is a devastating disease leading to death within 3-5 years in most cases. The diagnosis of AML is difficult to made in spite of acknowledgment for 140 years. It is diagnosed by clinical presentation which is a combination of upper and lower motor neuron signs and electro diagnostic studies which gives information about diffuse motor axonal injury. This neurodegenerative disorder results in degeneration of corticospinal tracts and anterior horn cells and involving motor neurons of the cerebral cortex, brainstem, and spinal cord. There are a variable signs and symptoms of this disease, so the diagnosis is very important for the management and better outcome of the patients. Cause of death in these patients is usually respiratory failure

Spinal Motor Circuit Synaptic Plasticity after Peripheral Nerve Injury Depends on Microglia Activation and a CCR2 Mechanism.

Peripheral nerve injury results in persistent motor deficits, even after the nerve regenerates and muscles are reinnervated. This lack of functional recovery is partly explained by brain and spinal cord circuit alterations triggered by the injury, but the mechanisms are generally unknown. One example of this plasticity is the die-back in the spinal cord ventral horn of the projections of proprioceptive axons mediating the stretch reflex (Ia afferents). Consequently, Ia information about muscle length and dynamics is lost from ventral spinal circuits, degrading motor performance after nerve regeneration. Simultaneously, there is activation of microglia around the central projections of peripherally injured Ia afferents, suggesting a possible causal relationship between neuroinflammation and Ia axon removal. Therefore, we used mice (both sexes) that allow visualization of microglia (CX3CR1-GFP) and infiltrating peripheral myeloid cells (CCR2-RFP) and related changes in these cells to Ia synaptic losses (identified by VGLUT1 content) on retrogradely labeled motoneurons. Microgliosis around axotomized motoneurons starts and peaks within 2 weeks after nerve transection. Thereafter, this region becomes infiltrated by CCR2 cells, and VGLUT1 synapses are lost in parallel. Immunohistochemistry, flow cytometry, and genetic lineage tracing showed that infiltrating CCR2 cells include T cells, dendritic cells, and monocytes, the latter differentiating into tissue macrophages. VGLUT1 synapses were rescued after attenuating the ventral microglial reaction by removal of colony stimulating factor 1 from motoneurons or in CCR2 global KOs. Thus, both activation of ventral microglia and a CCR2-dependent mechanism are necessary for removal of VGLUT1 synapses and alterations in Ia-circuit function following nerve injuries.SIGNIFICANCE STATEMENT Synaptic plasticity and reorganization of essential motor circuits after a peripheral nerve injury can result in permanent motor deficits due to the removal of sensory Ia afferent synapses from the spinal cord ventral horn. Our data link this major circuit change with the neuroinflammatory reaction that occurs inside the spinal cord following injury to peripheral nerves. We describe that both activation of microglia and recruitment into the spinal cord of blood-derived myeloid cells are necessary for motor circuit synaptic plasticity. This study sheds new light into mechanisms that trigger major network plasticity in CNS regions removed from injury sites and that might prevent full recovery of function, even after successful regeneration.

Neuroregenerative Rehabilitation Therapy with long-term Lithium in a Male Amyotrophic Lateral Sclerosis Patient: A Case Report.

Various cellular therapies are being increasingly investigated for the treatment of Amyotrophic Lateral Sclerosis (ALS), a progressive neurodegenerative disease with selective loss of anterior horn cells. Lithium is known to enhance the potency of transplanted cells, while being well tolerated by ALS patients. Additionally, rehabilitation significantly improves outcomes in various neurodegenerative disorders. We present a 47-year-old male patient suffering from ALS for 2 years, whose treatment involved intrathecal transplantation of autologous Bone Marrow-derived Mononuclear Cells and long-term Lithium, followed by multidisciplinary neurorehabilitation, and standard Riluzole treatment. ALS-FRSr score improved from 39 to 41; FIM remained stable at 101; 6MWT distance improved from 396 m to 480 m and Berg Balance score remained stable at 56 over a span of 18 months. Symptomatic improvements were seen in speech, swallow, stamina, walking and muscle strength; fasciculations and cramps reduced drastically. The highlight of this case is the maintenance of the patient’s condition in view of a degenerative prognosis. Cellular therapy along with long term Lithium and holistic rehabilitation, in addition to standard Riluzole treatment- together termed as Neuroregenerative Rehabilitation Therapy- is a novel approach for halting disease progression and qualitatively improving living conditions for ALS patients and caregivers alike.

Influence of electroacupuncture of "Dazhui" (EX-B2) and "Mingmen" (GV4) on NR2B expression in anterior horns of spinal cord in rats with acute spinal cord injury

To observe the influence of eletroacupuncture (EA) at "Dazhui" (EX-B2) and "Mingmen" (GV4) on expression of NR2B subunit of N-methyl-D-aspartate receptor (NMDA) in the injured anterior horn (AH) area of rats with acute spinal cord injury (SCI), so as to explore its mechanisms underlying improvement of neural repair. A total of 96 male Sprague-Dawley (SD) rats were randomly and equally divided into four groups: sham operation (sham), model, medication (Methyl-prednisone, MP) and EA (n＝24 in each group). The acute SCI model was established by using a MASCIS spinal cord impactor. EA (2 Hz, 0.5 mA) was applied to EX-B2 and GV4 for 30 min, once at 0.5 h, 12 and 24 h after SCI. Rats of the medication group were treated by tail intravenous injection of MP 30 mg/kg within 15 min (impact therapy) and 5.4 mg•kg－1•h－1 (maintaining treatment) 45 min thereafter for 23 h. The Basso, Beattie and Bresnahan (BBB) rating scale (0 to 21 points) was used to assess changes of locomotor function 6, 24 and 48 h after SCI. Histopathological changes of the injured spinal cord AH region were observed after sectioning and hematoxylin-eosin (H.E.) staining, and the expression levels of NR2B mRNA and protein of AH were measured by quantitative real-time PCR, Western blot and immunofluorescence, respectively. After SCI, the BBB scores at 6, 24 and 48 h were significantly decreased in the model group compared with those of the sham group (P<0.001), but had no remarkable changes in both medication and EA groups after the intervention in comparison with those of the model group (P>0.05). After modeling, the histopathological changes (blurred border of the grey-white matter, cellular karyopyknosis, deepening of the cytoplasmic red stain, and rupture, dissolution and disordered arrangement of myelinated nerve fibers) in the injury area of the spinal cord in the model group were apparent, the number of NR2B positive neurons and the relative expression levels of NR2B mRNA and protein were significantly increased in the model group relevant to the sham group (P<0.05). In contrast to the model group, the injured severity of the spinal cord AH region was relatively milder, and the expression levels of NR2B mRNA and protein were considerably down-regulated in both EA and MP groups (P<0.05). However, there were no significant differences between the EA and MP groups in the expression levels of NR2B mRNA and protein (P>0.05). EA at EX-B2 and GV4 may inhibit the expression of NR2B mRNA and protein in acute SCI rats, which may contribute to its action in promoting nerve repair of the injured ventricolumna area of the thoracic spinal cord.

P72 Riluzole causing pancytopenia: a clinically important rarity

DesignCase Report: An 83-year-old lady, was admitted with progressive speech and swallowing difficulty and wasting of small muscles of hand for 3 months. EMG revealed widespread anterior horn cell disease. With a diagnosis of MND, She was started on Riluzole 50 mg, LFT and FBC were normal before and 2 days after 1 st dose and the dose increased to a recommended dose of 50 mg twice a day. While waiting for PEG tube insertion, within 7 days, FBC showed a significant drop in Hb of 23 g/L ( from 125 to 102 g/L), Platelet dropped to 150×x10^9/L from 208 × 10^9/L, leucopenica ( 2.4 × 10^9/L) without any significant neutropenia. Her follow up haemogram showed persistent pancytopenia with more evident leucopenia and thrombocytopenia over next 7 days. She had no symptoms and signs of infection with normal infection screen. Her medication history was unremarkable apart from riluzole and thyroxine. No past history of liver disease or haematological conditions. Serum electrophoresis, Vitamin B12 and Folate were completely normal. A diagnosis of riluzole induced pancytopenia was made. A study by FDA suggests out of 861 patients, 3 patients (0.35%) developed Pancytopenia and 100% of them had it in the 1 st month. The aim of this case report to highlight the importance of considering Pancytopenia as an adverse reaction of riluzole. Patient may develop overt sepsis as a part of the spectrum. In that case, risk and benefit of riluzole prescription needs to addressed as an individual case basis.

Acute Manifestations of Neuromuscular Disease.

Neuromuscular emergencies may be defined as disorders or exacerbation of diseases of the peripheral nervous system that are rapidly progressive and potentially life-threatening. Such disorders can affect any level of the peripheral nervous system, from the muscle to the anterior horn cell. While their clinical manifestations may vary, severe morbidity and mortality is most frequently the result of neuromuscular respiratory failure. Some disorders, such as Guillain-Barré syndrome, provide the additional threat of severe, and potentially irreversible, nerve loss. Others, such as rhabdomyolysis and malignant hyperthermia, may produce serious medical complications. This article reviews neuromuscular emergencies by localization in the peripheral nervous system of the underlying disorder, as well as the identification and management of neuromuscular respiratory failure.

Intrathecal transplantation of Wharton’s jelly mesenchymal stem cells suppresses the NLRP1 inflammasome in the rat model of spinal cord injury

After spinal cord injury (SCI) local inflammation is induced following secretion of interleukin-1beta (IL-1β) and IL-18. It has been described that the secretion of IL-1β and IL-18 is mediated by a cytoplasmic multiprotein complex, termed inflammasome. Mesenchymal stem cells (MSCs) have been extensively used for treating inflammatory diseases in which they showed immunomodulation characteristics. We utilized the anti-inflammatory potential of Wharton’s jelly mesenchymal stem cells (WJ-MSCs) to target inflammasome complex in rat SCI model. Real time-polymerase chain reaction, western blotting, and ELISA assay were done one week after SCI to measure the expression of the inflammasome components including NLRP1, ASC, and active caspase-1 as well as IL-1β, IL-18, and tumor necrosis factor-α (TNF-α). The histologic alteration and hind-limb locomotion were evaluated three weeks after injury by nissl staining and Basso, Beattie, Bresnahan (BBB), respectively. Our results showed that WJ-MSCs transplantation significantly decreased the SCI-induced expression of the evaluated factors in both mRNA and protein levels. In addition, WJ-MSCs significantly increased the number of normal-appearance neurons in the ventral horn of spinal cord. Noteworthy, these effects resulted in a significant improvement of motor function recovery. We conclude that inflammasome inhibition may be one of the mechanisms for the anti-inflammatory effect of MSCs in the SCI.

Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease.

A common presentation of inherited prion disease is Gerstmann-Sträussler-Scheinker syndrome, typically presenting with gait ataxia and painful dysaesthesiae in the legs evolving over 2-5 years. The most frequent molecular genetic diagnosis is a P102L mutation of the prion protein gene (PRNP). There is no explanation for why this clinical syndrome is so distinct from Creutzfeldt-Jakob disease, and biomarkers of the early stages of disease have not been developed. Here we aimed, first, at determining if quantitative neurophysiological assessments could predict clinical diagnosis or disability and monitor progression and, second, to determine the neuropathological basis of the initial clinical and neurophysiological findings. We investigated subjects known to carry the P102L mutation in the longitudinal observational UK National Prion Monitoring Cohort study, with serial assessments of clinical features, peripheral nerve conduction, H and F components, threshold tracking and histamine flare and itch response and neuropathological examination in some of those who died. Twenty-three subjects were studied over a period of up to 12 years, including 65 neurophysiological assessments at the same department. Six were symptomatic throughout and six became symptomatic during the study. Neurophysiological abnormalities were restricted to the lower limbs. In symptomatic patients around the time of, or shortly after, symptom onset the H-reflex was lost. Lower limb thermal thresholds were at floor/ceiling in some at presentation, in others thresholds progressively deteriorated. Itch sensation to histamine injection was lost in most symptomatic patients. In six patients with initial assessments in the asymptomatic stage of the disease, a progressive deterioration in the ability to detect warm temperatures in the feet was observed prior to clinical diagnosis and the onset of disability. All of these six patients developed objective abnormalities of either warm or cold sensation prior to the onset of significant symptoms or clinical diagnosis. Autopsy examination in five patients (including two not followed clinically) showed prion protein in the substantia gelatinosa, spinothalamic tracts, posterior columns and nuclei and in the neuropil surrounding anterior horn cells. In conclusion, sensory symptoms and loss of reflexes in Gerstmann-Sträussler-Scheinker syndrome can be explained by neuropathological changes in the spinal cord. We conclude that the sensory symptoms and loss of lower limb reflexes in Gerstmann-Sträussler-Scheinker syndrome is due to pathology in the caudal spinal cord. Neuro-physiological measures become abnormal around the time of symptom onset, prior to diagnosis, and may be of value for improved early diagnosis and for recruitment and monitoring of progression in clinical trials.

Acute flaccid myelitis caused by enterovirus D68: Case definitions for use in clinical practice.

Acute flaccid myelitis (AFM) was increasingly detected in recent years, coinciding with upsurges of enterovirus D68 (EV-D68) infections. We reviewed the evidence for a causal relationship between both. Based on reported cases, we provide case definitions for AFM caused by EV-D68 infections to enable a standard procedure for affected patients. Current case definitions are focussing on epidemiological aspects but clinical case definitions are still missing. We propose the following case definitions to be used in clinical practice in order to mirror clinical realities and facilitate a common systematic approach in case management: A possible case is defined as a person presenting with either acute myelitis/paralysis or Guillain-Barré Syndrome (GBS), particularly during periods of EV-D68 circulation. A probable case is defined as a person presenting with symptoms of either acute myelitis/paralysis or GBS and at least one of the following criteria: i) MRI abnormality representing with T2 hyperintensity in spinal cord grey matter with or without hyperintensity at dorsal brain stem, ii) investigations showing an axonal neuropathy including reduced compound motor action potentials with normal conduction velocities and absence of conduction blocks compatible with anterior horn cell disease or iii) detection of enteroviruses in a respiratory specimen obtained from the lower respiratory tract during periods of EV-D68 circulation. A confirmed case is defined as a person presenting with acute flaccid myelitis/paralysis, MRI abnormality and detection of enterovirus-D68-specific nucleic acids in a respiratory specimen using a validated PCR assay targeting the VP1 gene with subsequent sequencing and typing.

Big data of clinical manifestations combined with neuroelectrophysiologic features in the early diagnosis of motor neuron disease

Motor neuron disease/amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder characterised by loss of upper motor neurons (including the Betz cells of the motor cortex), and lower motor neuron, anterior horn cells of the spinal cord and brainstem nuclei. 5–10% in ALS is hereditary and sporadic, with an incidence of 2–3 per 100,000. ALS is a fatal disease. The average survival of patients is 3–5 years. So far, the pathogenesis of ALS has been unclear. Although there are many drugs in the trial, there is no reversible treatment for motor neurons that are already degenerating. Although more and more researchers are investing a lot of energy in research, the time for identifying this disease is still very long. In the diagnosis of ALS patients, in order to obtain appropriate treatment and care, it is great significance of the concept of “the earlier the better” to diagnose. The purpose of this study was to explore factors for possible early diagnosis and potential therapeutic agents by reviewing the literature and collecting case data and discuss their potential for improvement. We retrospectively analyzed ALS patients from 23427 patients in department of neurology in Xi’an Gaoxin Hospital between December 2006 and March 2017. The conclusion displayed that early neurological electrophysiological examination combined with clinical features can improve the diagnosis of ALS.

Repair of long segmental ulnar nerve defects in rats by several different kinds of nerve transposition.

Multiple regeneration of axonal buds has been shown to exist during the repair of peripheral nerve injury, which confirms a certain repair potential of the injured peripheral nerve. Therefore, a systematic nerve transposition repair technique has been proposed to treat severe peripheral nerve injury. During nerve transposition repair, the regenerated nerve fibers of motor neurons in the anterior horn of the spinal cord can effectively grow into the repaired distal nerve and target muscle tissues, which is conducive to the recovery of motor function. The aim of this study was to explore regeneration and nerve functional recovery after repairing a long-segment peripheral nerve defect by transposition of different donor nerves. A long-segment (2 mm) ulnar nerve defect in Sprague-Dawley rats was repaired by transposition of the musculocutaneous nerve, medial pectoral nerve, muscular branches of the radial nerve and anterior interosseous nerve (pronator quadratus muscle branch). In situ repair of the ulnar nerve was considered as a control. Three months later, wrist flexion function, nerve regeneration and innervation muscle recovery in rats were assessed using neuroelectrophysiological testing, osmic acid staining and hematoxylin-eosin staining, respectively. Our findings indicate that repair of a long-segment ulnar nerve defect with different donor nerve transpositions can reinnervate axonal function of motor neurons in the anterior horn of spinal cord and restore the function of affected limbs to a certain extent.