Cervical Cord Research Articles

Quantifying neurodegeneration of the cervical cord and brain in degenerative cervical myelopathy: A multicentre study using quantitative magnetic resonance imaging.

Simultaneous assessment of neurodegeneration in both the cervical cord and brain across multiple centres can enhance the effectiveness of clinical trials. Thus, this study aims to simultaneously assess microstructural changes in the cervical cord and brain above the stenosis in degenerative cervical myelopathy (DCM) using quantitative magnetic resonance imaging (MRI) in a multicentre study. We applied voxelwise analysis with a probabilistic brain/spinal cord template embedded in statistical parametric mappin (SPM-BSC) to process multi parametric mapping (MPM) including effective transverse relaxation rate (R2*), longitudinal relaxation rate (R1), and magnetization transfer (MT), which are indirectly sensitive to iron and myelin content. Regression analysis was conducted to establish associations between neurodegeneration and clinical impairment. Thirty-eight DCM patients (mean age ± SD = 58.45 ± 11.47 years) and 38 healthy controls (mean age ± SD = 41.18 ± 12.75 years) were recruited at University Hospital Balgrist, Switzerland and Toronto Western Hospital, Canada. Remote atrophy was observed in the cervical cord (p = 0.002) and in the left thalamus (0.026) of the DCM group. R1 was decreased in the periaqueductal grey matter (p = 0.014), thalamus (p = 0.001), corpus callosum (p = 0.0001), and cranial corticospinal tract (p = 0.03). R2* was increased in the primary somatosensory cortices (p = 0.008). Sensory impairments were associated with increased iron-sensitive R2* in the thalamus and periaqueductal grey matter in DCM. Simultaneous assessment of the spinal cord and brain revealed DCM-induced demyelination, iron deposition, and atrophy. The extent of remote neurodegeneration was associated with sensory impairment, highlighting the intricate and expansive nature of microstructural neurodegeneration in DCM, reaching beyond the stenosis level.

Forelimb movements contribute to hindlimb cutaneous reflexes during locomotion in cats.

During quadrupedal locomotion, interactions between spinal and supraspinal circuits and somatosensory feedback coordinate forelimb and hindlimb movements. How this is achieved is not clear. To determine if forelimb movements modulate hindlimb cutaneous reflexes involved in responding to an external perturbation, we stimulated the superficial peroneal nerve in six intact cats during quadrupedal locomotion and during hindlimb-only locomotion (with forelimbs standing on stationary platform) and in two cats with a low spinal transection (T12-T13) during hindlimb-only locomotion. We compared cutaneous reflexes evoked in six ipsilateral and four contralateral hindlimb muscles. Results showed similar occurrence and phase-dependent modulation of short-latency inhibitory and excitatory responses during quadrupedal and hindlimb-only locomotion in intact cats. However, the depth of modulation was reduced in the ipsilateral semitendinosus during hindlimb-only locomotion. Additionally, longer-latency responses occurred less frequently in extensor muscles bilaterally during hindlimb-only locomotion while short-latency inhibitory and longer-latency excitatory responses occurred more frequently in the ipsilateral and contralateral sartorius anterior, respectively. After spinal transection, short-latency inhibitory and excitatory responses were similar to both intact conditions, while mid- or longer-excitatory responses were reduced or abolished. Our results in intact cats and the comparison with spinal-transected cats suggest that the absence of forelimb movements suppresses inputs from supraspinal structures and/or cervical cord that normally contribute to longer-latency reflex responses in hindlimb extensor muscles.

Posterior Occipitocervical Fixation and Intrathecal Baclofen Therapy for the Treatment of Basilar Invagination with Klippel–Feil Syndrome: A Case Report

Klippel–Feil syndrome (KFS) is characterized by the congenital fusion of the cervical vertebrae and is sometimes accompanied by anomalies in the craniocervical junction. In basilar invagination (BI), which is a dislocation of the dens in an upper direction, compression of the brainstem and cervical cord results in neurological defects and surgery is required. A 16-year-old boy diagnosed with KFS and severe BI presented with spastic tetraplegia, opisthotonus and dyspnea. CT scans showed basilar impression, occipitalization of C1 and fusion of C2/C3. MRI showed ventral compression of the medullocervical junction. Posterior occipitocervical reduction and fusion along with decompression were performed. Paralysis gradually improved postoperatively over 3 weeks. However, severe spasticity and opisthotonus persisted and intrathecal baclofen (ITB) therapy was initiated. Following this, opisthotonus disappeared and spasticity of the extremities improved. Rehabilitation therapy continued by controlling the dose of ITB. Five years after the surgery, self-propelled wheelchair driving was achieved and activities of daily life improved. The treatment strategy for patients with BI and congenital anomalies remains controversial. Posterior reduction and internal fixation using instrumentation were effective techniques in this case. Spasticity control achieved through a combination of surgery and ITB treatment enabled the amelioration of therapeutic efficacy of rehabilitation and the improvement of ADL.

Musculoskeletal morbidity in adults with spinal cord injuries: A nationwide cohort study.

An increase in the demand for quality of life following spinal cord injuries (SCIs) is associated with an increase in musculoskeletal (MSK) pain, highlighting the need for preventive measure research. This study aimed to evaluate the incidence and hazards of MSK morbidities among Korean adults with SCIs, as well as the influence of SCI location on MSK morbidities. Patient populations were selected from Korean National Health Insurance Service data (n = 276). The control group included individuals without SCIs (n = 10,000). We compared the incidences and determined the unadjusted and adjusted hazard ratios (HRs) of common MSK morbidities (osteoarthritis, connective tissue disorders, sarcopenia, myalgia, neuralgia, rheumatoid arthritis, myositis, and musculoskeletal infections) based on the location of injury (cervical, thoracic, or lumbar). Adults with SCIs had a higher incidence of MSK morbidity (48.45% vs. 36.6%) and a lower survival probability than those without SCIs. The incidence of MSK morbidity and survival probabilities were not significantly different for cervical cord injuries, whereas both measures were significantly different for thoracic and lumbar injuries. SCI increases the risk of MSK morbidity. Lumbar SCI is associated with a higher incidence and risk of MSK morbidity than are cervical or thoracic SCIs.

A role for vessel-associated extracellular matrix proteins in multiple sclerosis pathology.

Multiple sclerosis (MS) is unsurpassed for its clinical and pathological hetherogeneity, but the biological determinants of this variability are unknown. HLA-DRB1*15, the main genetic risk factor for MS, influences the severity and distribution of MS pathology. This study set out to unravel the molecular determinants of the heterogeneity of MS pathology in relation to HLA-DRB1*15 status. Shotgun proteomics from a discovery cohort of MS spinal cord samples segregated by HLA-DRB*15 status revealed overexpression of the extracellular matrix (ECM) proteins, biglycan, decorin, and prolargin in HLA-DRB*15-positive cases, adding to established literature on a role of ECM proteins in MS pathology that has heretofore lacked systematic pathological validation. These findings informed a neuropathological characterisation of these proteins in a large autopsy cohort of 41 MS cases (18 HLA-DRB1*15-positive and 23 HLA-DRB1*15-negative), and seven non-neurological controls on motor cortical, cervical and lumbar spinal cord tissue. Biglycan and decorin demonstrate a striking perivascular expression pattern in controls that is reduced in MS (-36.5%, p = 0.036 and - 24.7%, p = 0.039; respectively) in lesional and non-lesional areas. A concomitant increase in diffuse parenchymal accumulation of biglycan and decorin is seen in MS (p = 0.015 and p = 0.001, respectively), particularly in HLA-DRB1*15-positive cases (p = 0.007 and p = 0.046, respectively). Prolargin shows a faint parenchymal pattern in controls that is markedly increased in MS cases where a perivascular deposition pattern is observed (motor cortex +97.5%, p = 0.001; cervical cord +49.1%, p = 0.016). Our findings point to ECM proteins and the vascular interface playing a central role in MS pathology within and outside the plaque area. As ECM proteins are known potent pro-inflammatory molecules, their parenchymal accumulation may contribute to disease severity. This study brings to light novel factors that may contribute to the heterogeneity of the topographical variation of MS pathology.

The role of surgical disconnection for posterior fossa pial arteriovenous fistulas and dural fistulas with pial supply: an illustrative case series.

Pial arteriovenous fistulas (pAVFs) are rare vascular malformations characterized by high-flow arteriovenous shunting involving a cortical arterial supply directly connecting to venous drainage without an intermediate nidus. Dural arteriovenous fistulas (dAVFs) can infrequently involve additional pial feeders which can introduce higher flow shunting and increase the associated treatment risk. In the posterior fossa, arteriovenous fistula (AVF) angioarchitecture tends to be particularly complex, involving either multiple arterial feeders-sometimes from both dural and pial origins-or small caliber vessels that are difficult to catheterize and tend to be intimately involved with functionally critical brainstem or upper cervical cord structures. Given their rarity, published experience on microsurgical or endovascular treatment strategies for posterior fossa pAVFs and dAVFs with pial supply remains limited. Retrospective chart review from 2019-2023 at a high-volume center identified six adult patients with posterior fossa pAVFs that were unable to be fully treated endovascularly and required microsurgical disconnection. These cases are individually presented with a technical emphasis andsupported by comprehensive angiographic and intraoperative images. One vermian (Case 1), three cerebellopontine angle (Cases 2-4) and two craniovertebral junction (Cases 5-6) posterior fossa pAVFs or dAVFs with pial supply are presented. Three cases involved mixed dural and pial arterial supply (Cases 1, 4, and 6), and one case involved a concomitant microAVM (Case 2). Endovascular embolization was attempted in four cases (Cases 1-4): The small caliber and tortuosity of the main arterial feeder prevented catheterization in two cases (Cases 1 and 3). Partial embolization was achieved in Cases 2 and 4. In Cases 5 and 6, involvement of the lateral spinal artery or anterior spinal artery created a prohibitive risk forendovascular embolization, and surgical clip ligation was pursued as primary management. In all cases, microsurgical disconnection resulted in complete fistula obliteration without evidence of recurrence on follow-up imaging (mean follow-up 27.1 months). Two patients experienced persistent post-treatment sensory deficits without significant functional limitation. This illustrative case series highlights thetechnical difficulties and anatomical limitations of endovascular management for posterior fossa pAVFs and dAVFs with pial supply and emphasizes the relative safety and utility of microsurgical disconnection in this context. A combined approach involving partial preoperative embolization-when the angioarchitecture is permissive-can potentially decrease surgical morbidity. Larger studies are warranted to better define the role for multimodal intervention and to assess associated long-term AVF obliteration rates in the setting of pial arterial involvement.

[A case of high cervical cord infarction presenting with cardiopulmonary arrest due to respiratory dysfunction].

A 46-year-old man with neck pain and impaired physical mobility called for emergency medical services. The patient was able to communicate with the emergency medical team upon their arrival. However, he went into cardiopulmonary arrest 5 minutes later. Cardiopulmonary resuscitation was immediately performed, and the patient was admitted to our hospital with a Glasgow Coma Scale score of E1V1M1. His respiratory rate was 5 breaths/minute and his partial pressure of carbon dioxide in arterial blood (PaCO2) was 127 ‍mmHg, necessitating intubation and ventilation. His consciousness improved as the PaCO2 level decreased. However, he was unable to be weaned off the ventilator and breathe independently. Neurological examination revealed flaccid quadriplegia, pain sensation up to the C5 level, absence of deep tendon reflexes, indifferent plantar responses, and absence of the rectoanal inhibitory reflex. Magnetic resonance imaging showed a hyperintense lesion with slight enlargement of the anterior two-thirds of the spinal cord at the C2-C4 level on both T2-weighted and diffusion-weighted images, consistent with a diagnosis of spinal cord infarction. Although the quadriplegia and sensory loss partially improved, the patient was unable to be weaned from the ventilator. Cervical cord infarction of the anterior spinal artery can cause rapid respiratory failure leading to cardiopulmonary arrest. Therefore, cervical cord infarction should be included as a differential diagnosis when examining patients after cardiopulmonary resuscitation.

Wallerian Degeneration Assessed by Multi-Modal Magnetic Resonance Imaging of Cervical Spinal Cord Is Associated With Neurological Impairment After Spinal Cord Injury.

While Wallerian degeneration (WD) is a crucial pathological process induced with spinal cord injury (SCI), its underlying mechanisms is still understudied. In this study, we aim to assess structural alterations and clinical significance of WD in the cervical cord following SCI using multi-modal magnetic resonance imaging (MRI), which combines T2*-weighted imaging and diffusion tensor imaging (DTI). T2*-weighted images allow segmentation of anatomical structures and the detection of WD on macrostructural level. DTI, on the other hand, can identify the reduction in neuroaxonal integrity by measuring the diffusion of water molecules on the microstructural level. In this prospective study, 35 SCI patients (19 paraplegic and 16 tetraplegic patients) and 12 healthy controls were recruited between July 2020 and May 2022. The hyperintensity voxels in the dorsal column was manually labeled as WD on T2*-weighted images. The mean cross-sectional area (CSA) and mean DTI indexes of WD at the C2 level were calculated and compared between groups. Correlation analysis was used to determine the associations of the magnitude of WD with lesion characteristics and clinical outcomes. Compared with controls, SCI patients showed evident hyperintensity (35/35) and decreased neuroaxonal integrity (p < 0.05) within the dorsal column at the C2 level. A higher neurological level of injury was associated with a larger mean CSA and reduction in neuroaxonal integrity within WD (p < 0.05). Smaller total and dorsal tissue bridges were related to greater mean CSA and lower fractional anisotropy values in WD (p < 0.05), respectively. Moreover, SCI participants with significantly larger CSAs and significantly lower microstructural integrity had worse sensory outcomes (p < 0.05). This comprehensive evaluation of WD can help us better understand the mechanisms of WD, monitor progression, and assess the effectiveness of therapeutic interventions after SCI.

Modular organization of functional brain networks in patients with degenerative cervical myelopathy

Previous studies have indicated that brain functional plasticity and reorganization in patients with degenerative cervical myelopathy (DCM). However, the effects of cervical cord compression on the functional integration and separation between and/or within modules remain unclear. This study aimed to address these questions using graph theory. Functional MRI was conducted on 46 DCM patients and 35 healthy controls (HCs). The intra- and inter-modular connectivity properties of the whole-brain functional network and nodal topological properties were then calculated using theoretical graph analysis. The difference in categorical variables between groups was compared using a chi-squared test, while that between continuous variables was evaluated using a two-sample t-test. Correlation analysis was conducted between modular connectivity properties and clinical parameters. Modules interaction analyses showed that the DCM group had significantly greater inter-module connections than the HCs group (DMN-FPN: t = 2.38, p = 0.02); inversely, the DCM group had significantly lower intra-module connections than the HCs group (SMN: t = − 2.13, p = 0.036). Compared to HCs, DCM patients exhibited higher nodal topological properties in the default-mode network and frontal–parietal network. In contrast, DCM patients exhibited lower nodal topological properties in the sensorimotor network. The Japanese Orthopedic Association (JOA) score was positively correlated with inter-module connections (r = 0.330, FDR p = 0.029) but not correlated with intra-module connections. This study reported alterations in modular connections and nodal centralities in DCM patients. Decreased nodal topological properties and intra-modular connection in the sensory-motor regions may indicate sensory-motor dysfunction. Additionally, increased nodal topological properties and inter-modular connection in the default mode network and frontal-parietal network may serve as a compensatory mechanism for sensory-motor dysfunction in DCM patients. This could provide an implicative neural basis to better understand alterations in brain networks and the patterns of changes in brain plasticity in DCM patients.

Upper Cervical Cord Atrophy Predicts Disability Through Motor Clinical Impairment in Multiple Sclerosis Patients (P8-11.017)

Upper Cervical Cord Atrophy Predicts Disability Through Motor Clinical Impairment in Multiple Sclerosis Patients (P8-11.017)

Leverage of applying diffusion tensor imaging (DTI) indices in assessment of cervical spondylotic myelopathy

BackgroundCervical spondylotic myelopathy (CSM) is the most prevalent form of dysfunction in the cervical cord. For best results, CSM must be identified and treated quickly, before spinal cord injury develops. We aimed at determining the diagnostic value of quantitative and qualitative diffusion tensor imaging (DTI) indices in the assessment of CSM. Thirty patients were included in this prospective study with clinically suspected CSM of both sexes. This study aimed at determining the diagnostic value of quantitative and qualitative DTI indices in early assessment of CSM and subsequently early and proper management decision rendering better clinical outcome.ResultsThis prospective study included 30 patients: with clinically suspected CSM with a mean age of 51.88 ± 10.28 years. Patients with CSM were graded to 3 grades, mild (No. = 17), moderate (No. = 13) and severe (No. = 0) according to the modified Japanese orthopedic association (mJOA) grading system. Correlation test was performed between mJOA grades of severity with fractional anisotropy (FA), apparent diffusion coefficient (ADC) and T2 cord signal. We found a negative correlation between ADC and FA with Spearman’s rho value of − 0.612 and “P value 0.000” (P value < 0.05), a positive correlation between FA with mJOA clinical score with Spearman’s rho value of − 0.504 & “P value 0.036” (P value < 0.05) and a negative correlation between ADC and mJOA clinical score with Spearman’s rho value of 0.385 and P value 0.005 (P value < 0.05), and no significant correlation was found between mJOA clinical score and T2 hyperintense signal with Spearman’s rho value of − 0.304 and “P value 0.102” (P value < 0.05). Qualitative maps grading by 3D tractography images were done, and 18 patients in the study (60%) showed homogenous intact fiber tracts (grade I), 9 patients (30%) showed reduction or alteration of anisotropy or mixed colors intensity (grade II), and 3 patients (10%) showed fiber tract disruption or displaced cord (grade III). Three DTI parameters (other than FA and ADC) were measured, and two of them show significant difference between their measures in the stenotic and non-stenotic portions of the spinal cord—RA (P value = 0.00) and RD (P value = 0.00).ConclusionsWe concluded that DTI is a crucial tool for early diagnosis and grading of CSM (cervical spondylosis myelopathy)—quantitatively and qualitatively—hence, it should be routinely integrated with conventional cervical spine MRI in case of clinically or radiologically suspected cervical cord compression, as the FA parameter together with the clinical assessment formulates the management plan decision for the CSM whether surgical or non-surgical and depicts the need for early surgical decision rendering better clinical outcome compared to that based on T2 hyperintense cord signal.

Medulla and cervical cord contrast-induced encephalopathy detected by neuromonitoring during coil embolization of posterior circulation aneurysms.

Understanding the risks of contrast-induced encephalopathy (CIE), a serious complication of contrast agents, is crucial in endovascular treatment. We present the case of a 73-year-old woman who developed CIE in the medulla and cervical cord during coil embolization for unruptured left basilar-superior cerebellar artery and basilar artery tip aneurysms. The CIE was identified via neuromonitoring. In this case, spinal cord ischemia might have occurred due to reduced perfusion pressure after inserting the distal access catheter (DAC) in the vertebral artery. Multiple injections of contrast medium via the DAC during coil embolization likely contributed to an unusual form of CIE. Extreme caution is warranted during endovascular treatments involving the posterior circulation, due to the relatively high incidence of contrast-mediated encephalopathy, which can lead to severe consequences such as perforator infarction. Neuromonitoring is very useful for the early detection of neurological changes, particularly because intraoperative angiography may not reveal all irregularities.

Neuralgia in the occipital region associated with ipsilateral trigeminal herpes zoster: Three case reports.

Nerve fibers related to pain and temperature sensation in the trigeminal nerve territory converge with the upper cervical spinal nerves from the level of the lower medulla oblongata to the upper cervical cord. This structure is called the trigemino-cervical complex and may cause referred pain in the territory of the trigeminal or upper cervical spinal nerves. Here, we report three cases of paroxysmal neuralgia in the occipital region with mild conjunctivitis or a few reddish spots in the ipsilateral trigeminal nerve territory. The patients exhibited gradual progression of these reddish spots evolving into vesicles over the course of several days, despite the absence of a rash in the occipital region. The patients were diagnosed with trigeminal herpes zoster and subsequently received antiherpetic therapy. Remarkably, the neuralgia in the occipital region showed gradual amelioration or complete resolution before the treatment, with no sequelae reported in the occipital region. The trigemino-cervical complex has the potential to cause neuralgia in the occipital region, as referred pain, caused by trigeminal herpes zoster. These cases suggest that, even if conjunctivitis or reddish spots appear to be trivial in the trigeminal nerve territory, trigeminal herpes zoster should be considered when neuralgia occurs in the ipsilateral occipital region.

Exploring Spinal Cord Changes in Multiple Sclerosis Patients Using MRI

Multiple sclerosis (MS) is an autoimmune disease affecting the central nervous system (CNS). The diagnosis of MS is based on clinical signs and symptoms as well as findings in magnetic resonance imaging (MRI) sequences by demonstrating the spatial and temporal dispersion of white matter lesions, which are thought to be typical of MS in distribution, shape, extent, and signal abnormalities. Spinal cord MRI can identify asymptomatic lesions and rule out malignancies or spinal stenosis in patients for whom brain imaging is not helpful in making an MS diagnosis. This study examines the MRI features of Saudi Arabian patients clinically proven to have MS with typical lesions exclusively evident in the spinal cord. This retrospective cross-sectional study was carried out in 151 patients who are confirmed cases of MS based on clinical findings and MRI results. Patients’ MRI data were reviewed from the picture archiving and communication system (PACS). The study revealed that MS incidence was higher in females than males and that the number of people diagnosed with MS increased in middle age. Cervical cord plaques and cervical cord curve straightening were the most frequent changes (67% and 56%, respectively), indicating that MRI can complement and even replace clinical data in MS diagnosis, leading to earlier, more precise diagnoses and speedier starts to treatment.

Alterations in the spinal cord, trigeminal nerve ganglion, and infraorbital nerve through inducing compression of the dorsal horn region at the upper cervical cord in trigeminal neuralgia

BackgroundIdiopathic trigeminal neuralgia (TN) cases encountered frequently in daily practice indicate significant gaps that still need to be illuminated in the etiopathogenesis. In this study, a novel TN animal model was developed by compressing the dorsal horn (DH) of the upper cervical spinal cord. MethodsEighteen rabbits were equally divided into three groups, namely control (CG), sham (SG), and spinal cord compression (SCC) groups. External pressure was applied to the left side at the C3 level in the SCC group. Dorsal hemilaminectomy was performed in the SG, and the operative side was closed without compression. No procedure was implemented in the control group. Samples from the SC, TG, and ION were taken after seven days. For the histochemical staining, damage and axons with myelin were scored using Hematoxylin and Eosin and Toluidine Blue, respectively. Immunohistochemistry, nuclei, apoptotic index, astrocyte activity, microglial labeling, and CD11b were evaluated. ResultsMechanical allodynia was observed on the ipsilateral side in the SCC group. In addition, both the TG and ION were partially damaged from SC compression, which resulted in significant histopathological changes and increased the expression of all markers in both the SG and SCC groups compared to that in the CG. There was a notable increase in tissue damage, an increase in the number of apoptotic nuclei, an increase in the apoptotic index, an indication of astrocytic gliosis, and an upsurge in microglial cells. Significant increases were noted in the SG group, whereas more pronounced significant increases were observed in the SCC group. Transmission electron microscopy revealed myelin damage, mitochondrial disruption, and increased anchoring particles. Similar changes were observed to a lesser extent in the contralateral spinal cord. ConclusionIpsilateral trigeminal neuropathic pain was developed due to upper cervical SCC. The clinical finding is supported by immunohistochemical and ultrastructural changes. Thus, alterations in the DH due to compression of the upper cervical region should be considered as a potential cause of idiopathic TN.

Prediction of pulmonary infection in patients with severe myelitis by NPAR combined with spinal cord lesion segments.

To investigate the risk factors of pulmonary infection in patients with severe myelitis and construct a prediction model. The clinical data of 177 patients with severe myelitis at admission from the First Affiliated Hospital of Zhengzhou University from January 2020 to December 2022 were retrospectively analyzed. The predicting factors associated with pulmonary infection were screened by multivariate logistic regression analysis, and the nomogram model was constructed, and the predictive efficiency of the model was evaluated, which was verified by calibration curve, Hosmer-Lemeshow goodness-of-fit test and decision curve analysis. Of the 177 patients with severe myelitis, 38 (21.5%) had pulmonary infection. Multivariate logistic regression analysis showed that neutrophil percentage to albumin ratio (NPAR) (OR = 6.865, 95%CI:1.746-26.993, p = 0.006) and high cervical cord lesion (OR = 2.788, 95%CI:1.229-6.323, p = 0.014) were independent risk factors for pulmonary infection, and the combined nomogram could easily predict the occurrence of pulmonary infection, with a C-index of 0.766 (95% CI: 0.678-0.854). The calibration curve, Hosmer-Lemeshow goodness-of-fit test (χ2 = 9.539, p = 0.299) and decision curve analysis showed that the model had good consistency and clinical applicability. The nomogram model constructed based on NPAR combined with high cervical cord lesion at admission has good clinical application value in predicting pulmonary infection in patients with severe myelitis, which is conducive to clinicians' evaluation of patients.

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality

BackgroundCongenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone oxidoreductase (complex I, CI) deficiency is the most common. Biallelic pathogenic variants in NDUFAF2, encoding the nuclear assembly CI factor NDUFAF2, were initially reported to cause progressive encephalopathy beginning in infancy. Since the initial report in 2005, less than a dozen patients with NDUFAF2-related disease have been reported.MethodsClinical, biochemical, and neuroradiological features of four new patients residing in Northern Israel were collected during 2016–2022 at Emek Medical Center. Enzymatic activities of the five respiratory-chain complexes were determined in isolated fibroblast mitochondria by spectrophotometric methods. Western blot analyses were conducted with anti-human NDUFAF2 antibody; antibody against the mitochondrial marker VDAC1 was used as a loading control. Genetic studies were performed by chromosome microarray analysis using Affymetrix CytoScan 750 K arrays.ResultsAll four patients presented with infantile-onset growth retardation, ophthalmological impairments with nystagmus, strabismus (starting between 5 and 9 months), and further progressed to life-threatening episodes of apnea usually triggered by trivial febrile illnesses (between 10 and 18 months) with gradual loss of acquired developmental milestones (3 of 4 patients). Serial magnetic-resonance imaging studies in two of the four patients showed a progressive pattern of abnormal T2-weighted hyperintense signals involving primarily the brainstem, the upper cervical cord, and later, the basal ganglia and thalami. Magnetic-resonance spectroscopy in one patient showed an increased lactate peak. Disease progression was marked by ventilatory dependency and early lethality. 3 of the 4 patients tested, harbored a homozygous 142-kb partial interstitial deletion that omits exons 2–4 of NDUFAF2. Mitochondrial CI activity was significantly decreased in the only patient tested. Western blot analysis disclosed the absence of NDUFAF2 protein compared to normal controls. In addition, we reviewed all 10 previously reported NDUFAF2-deficient cases to better characterize the disease.ConclusionsBiallelic loss-of-function mutations in NDUFAF2 result in a distinctive phenotype in the spectrum of Leigh syndrome with clinical and neuroradiological features that are primarily attributed to progressive brainstem damage.

Comparing Spinal Cord Drift, Clinical Outcomes and C5 Palsy in Degenerative Cervical Myelopathy: A Study of Cervical Laminoplasty Versus Laminectomy/Fusion.

Retrospective comparative study. (i)to compare spinal cord drift between laminectomy and fusion(LF) and cervical laminoplasty(LP) for degenerative cervical myelopathy(DCM) treatment,(ii)to study relationship between preoperative cervical alignment, postoperative spinal cord drift, functional outcome, and C5 palsy. A cohort of 114 patients who underwent LP or LF for DCM were identified. After propensity-score matching, both groups included 30 patients each.Cobb angle(C2-C7) was used to assess pre-and postoperative cervical spine alignment(at 2-year follow-up).Based on alignment, there were lordotic(L) and straight(S) subgroups.Spinal cord position was measured on sagittal-and axial-T2W MRI of cervical spine pre-and postoperatively at 2-year follow-up and cord drift was measured by subtracting preoperative values from postoperative values.Functional recovery(mJOA score, mJOA recovery rate),and C5 palsy in patients were recorded and compared. LF had higher mean spinal cord drift than LP(2.66 ± .77 vs 2.16 ± .80mm, P = .049).Lordotic subgroups exhibited greater cord drift than straight subgroups within LP and LF groups.Both groups significantly improved mJOA scores at 2-year follow-up, with no LP-LF difference in mJOA recovery rate(mJOA-RR).Lordotic subgroups had significantly higher mJOA-RR(LP-L vs LP-S,P = .048; LF-L vs LF-S,P = .045).Preoperative cervical alignment, cord drift, and mJOA-RR correlated well(Spearman's ρ .7143 and .6053 respectively).Patients with >2.5mm cord drift(n = 24) had significantly higher mJOA-RR as compared to <2.5mm cord drift(n = 18). Substantial clinical difference was seen in C5 palsy risk between LP-S and LF-L, with the LF-L group having 3-fold higher risk. LF had a biomechanical advantage in maximizing spinal cord drift in severe DCM cases, while both LP and LF showed significant improvements in neurological function. However, variability in C5 palsy rates highlights the need for individualized patient assessment.

Effects of the walking independence on lower extremity and trunk muscle activity during straight-leg raising following incomplete cervical cord injury

The purpose of this study was to compare the acceleration and surface electromyography (EMG) of the lower extremity and trunk muscles during straight-leg raising (SLR) in patients with incomplete cervical cord injury according to their levels of walking independence. Twenty-four patients were measured acceleration and EMG during SLR held for 10 s. Data were analyzed separately for the dominant and nondominant sides and compared between the nonindependent (NI) and independent (ID) groups based on their levels of walking independence. Frequency analysis of the EMG showed that the high-frequency (HF) band of the contralateral biceps femoris (BF) in the ID group and bands below the medium-frequency (MF) of the BF and the HF and MF bands of the rectus abdominis in the NI group were significantly higher during dominant and nondominant SLR. During the nondominant SLR, the low-frequency band of the internal oblique and the MF band of the external oblique were significantly higher in the NI group. The ID group mobilized muscle fiber type 2 of the BF, whereas the NI group mobilized type 1 of the BF and types 2 and 1 of the trunk muscles to stabilize the pelvis. This result was more pronounced during the nondominant SLR.

What contributes to disability in progressive MS? A brain and cervical cord–matched quantitative MRI study

Background: We assessed the ability of a brain-and-cord-matched quantitative magnetic resonance imaging (qMRI) protocol to differentiate patients with progressive multiple sclerosis (PMS) from controls, in terms of normal-appearing (NA) tissue abnormalities, and explain disability. Methods: A total of 27 patients and 16 controls were assessed on the Expanded Disability Status Scale (EDSS), 25-foot timed walk (TWT), 9-hole peg (9HPT) and symbol digit modalities (SDMT) tests. All underwent 3T brain and (C2-C3) cord structural imaging and qMRI (relaxometry, quantitative magnetisation transfer, multi-shell diffusion-weighted imaging), using a fast brain-and-cord–matched protocol with brain-and-cord–unified imaging readouts. Lesion and NA-tissue volumes and qMRI metrics reflecting demyelination and axonal loss were obtained. Random forest analyses identified the most relevant volumetric/qMRI measures to clinical outcomes. Confounder-adjusted linear regression estimated the actual MRI-clinical associations. Results: Several qMRI/volumetric differences between patients and controls were observed (p < 0.01). Higher NA-deep grey matter quantitative-T1 (EDSS: beta = 7.96, p = 0.006; 9HPT: beta = −0.09, p = 0.004), higher NA-white matter orientation dispersion index (TWT: beta = −3.21, p = 0.005; SDMT: beta = −847.10, p < 0.001), lower whole-cord bound pool fraction (9HPT: beta = 0.79, p = 0.001) and higher NA-cortical grey matter quantitative-T1 (SDMT = −94.31, p < 0.001) emerged as particularly relevant predictors of greater disability. Conclusion: Fast brain-and-cord–matched qMRI protocols are feasible and identify demyelination – combined with other mechanisms – as key for disability accumulation in PMS.