Paraplegia

BACKGROUND AND PURPOSE: White matter (WM) damage is the main target of hereditary spastic paraplegia (HSP), but mounting evidence indicates that genotype-specific grey matter (GM) damage is not uncommon. Our aim was to identify and compare brain GM and WM damage patterns in HSP subtypes and investigate how gene expression contributes to these patterns, and explore the relationship between GM and WM damage. METHODS: In this prospective single-centre cohort study from 2019 to 2022, HSP patients and controls underwent magnetic resonance imaging evaluations...

STUDY DESIGN: Secondary analysis of cross-sectional data from the ALLRISC cohort study. OBJECTIVES: To investigate the prevalence of obesity and its association with time since injury (TSI) and physical activity (PA) in wheelchair users with long-standing (TSI > 10 years) spinal cord injury (SCI). SETTING: Community, The Netherlands. METHODS: Wheelchair users with SCI (N = 282) in TSI strata (10-19, 20-29, and ≥30 years) and divided in meeting SCI-specific exercise guidelines or not...

STUDY DESIGN: Qualitative Cohort Study. OBJECTIVES: Many people with long-term spinal cord injury (SCI) develop adaptation strategies to succeed. Understanding the factors that support their capacity to adapt and develop is important to enhance quality of life of others with SCI. This study aims to learn how these factors influence how people with SCI attain and maintain optimal quality of life as time since injury grows. SETTING: IL, USA...

METHODS: We used a Urethrotech catheterisation device in 57 male patients with spinal cord injury, in whom urethral catheterisation was unsuccessful or previous catheterisation was difficult. RESULTS: Urethrotech catheter could be inserted in 51 patients. No patient developed urinary tract infection. In one patient, the guidewire could not be introduced into the bladder, and a coude Foley catheter was inserted. In two patients, the guidewire was inserted into the bladder, but a 16 CH catheter could not be advanced over the guidewire...

RATIONALE: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene leading to very long chain fatty acid (VLCFA) accumulation. The disease demonstrates a spectrum of phenotypes including adrenomyeloneuropathy (AMN). We aimed to identify the genetic basis of disease in a patient presenting with AMN features in order to confirm the diagnosis, expand genetic knowledge of ABCD1 mutations, and elucidate potential genotype-phenotype associations to inform management. PATIENT CONCERNS: A 29-year-old male presented with a 4-year history of progressive spastic paraplegia, weakness of lower limbs, fecal incontinence, sexual dysfunction, hyperreflexia, and positive Babinski and Chaddock signs...

Spinal cord injury (SCI) is a severely disabling and catastrophic condition that poses significant global clinical challenges. The difficulty of SCI repair results from the distinctive pathophysiological mechanisms, which are characterised by limited regenerative capacity and inadequate neuroplasticity of the spinal cord. Additionally, the formation of cystic cavities and astrocytic scars after SCI further obstructs both the ascending and descending neural conduction pathways. Consequently, the urgent challenge in post-SCI recovery lies in repairing the damaged spinal cord to reconstruct a functional and intact neural conduction circuit...

STUDY DESIGN: Systematic review and meta-analysis. OBJECTIVES: The current study aimed to assess the efficacy and safety of Onabotulinum toxin A (OBTX-A) treatment for neurogenic detrusor overactivity (NDO) in spinal cord injury (SCI) patients. SETTING: Iran. METHODS: All relevant articles of clinical trials and cohort studies indexed in PubMed/MEDLINE, Embase, Scopus, and Web of Science databases up to September 6, 2022, that addressed OBTX-A treatment for NDO following SCI were included...

INTRODUCTION: Prader-Willi syndrome (PWS) represents a difficult challenge for spine surgeons, due to the association of a structural scoliosis, with a prevalence between 15 and 86%. Conservative therapy is a viable option, but surgery is increasingly becoming the treatment of choice. METHODS: The authors reviewed a series of 15 patients affected by PWS treated at their institution between 2008 and 2023. The mean age at index treatment was 9 years and 3 months (range 1-15 years) with a prevalence of female subjects...

DESIGN: Prospective diagnostic study. OBJECTIVES: Anatomical evaluation and graduation of the severity of spinal stenosis is essential in degenerative cervical spine disease. In clinical practice, this is subjectively categorized on cervical MRI lacking an objective and reliable classification. We implemented a fully-automated quantification of spinal canal compromise through 3D T2-weighted MRI segmentation. SETTING: Medical Center - University of Freiburg, Germany...

Gangliosides, sialic acid-containing glycosphingolipids, are abundant in cell membranes and primarily involved in controlling cell signaling and cell communication. The altered ganglioside pattern has been demonstrated in several neurodegenerative diseases, characterized during early-onset or infancy, emphasizing the significance of gangliosides in the brain. Enzymes required for the biosynthesis of gangliosides are linked to several devastating neurological disorders, including Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), amyotrophic lateral sclerosis (ALS), hereditary spastic paraplegia (HSP)...

BACKGROUND: Nationwide research on the association between carbapenem-resistant Enterobacterales (CREs) and antibiotic use is limited. METHODS: This nested case-control study analyzed Korean National Health Insurance claims data from April 2017 to April 2019. Based on the occurrence of CRE, hospitalized patients aged ≥ 18 years were classified into CRE (cases) and control groups. Propensity scores based on age, sex, modified Charlson comorbidity score, insurance type, long-term care facility, intensive care unit stay, and acquisition of vancomycin-resistant Enterococci were used to match the case and control groups (1:3)...

OBJECTIVES: This systematic review and meta-analysis aims to investigate the effectiveness of left subclavian artery revascularization compared to non-revascularization in thoracic endovascular aortic repair, and to summarize the current evidence on its indications. METHODS: A computerized search was conducted across multiple databases, including MEDLINE, SCOPUS, Cochrane Library, and Web of Science, for studies published up to November 2023. Study selection, data abstraction, and quality assessment (using the Newcastle-Ottawa Scale) were independently conducted by two reviewers, with a third author resolving discrepancies...

BACKGROUND: Thoracic spinal cord injury after posterior cranial fossa surgery in younger patients is a rare complication. There have been reports of this complication in tumor and spine fields but not in vascular surgery. OBSERVATIONS: A 22-year-old-man experienced cerebellar arteriovenous malformation rupture, and the malformation was surgically removed with the man in the Concorde position. After surgery, the man had severe paraplegia, and a thoracic spinal cord injury was diagnosed...

UNLABELLED: Lysosomes and related precursor organelles robustly build up in swollen axons that surround amyloid plaques and disrupted axonal lysosome transport has been implicated in worsening Alzheimer's pathology. Our prior studies have revealed that loss of Adaptor protein-4 (AP-4) complex function, linked primarily to Spastic Paraplegia (HSP), leads to a similar build of lysosomes in structures we term "AP-4 dystrophies". Surprisingly, these AP-4 dystrophies were also characterized by enrichment of components of APP processing machinery, β-site cleaving enzyme 1 (BACE1) and Presenilin 2...

OBJECTIVES: Paraplegia remains one of the major complications of contemporary open thoracoabdominal aortic aneurysm (TAAA) repair. Intraoperative motor-evoked potentials (MEPs) act as a surrogate measure for spinal cord homeostasis. The purpose of this study was to evaluate the results of intraoperative neuromonitoring in contemporary TAAA repair and its association with postoperative spinal cord ischemia. METHODS: Patients who underwent open type 2 or 3 TAAA or completion aortic repair utilizing intraoperative neuromonitoring were identified between May 2006 and November 2023...

INTRODUCTION: Spastic paraplegia (SPG) is a heterogenous group of neurodegenerative disorders, that may include ocular involvement. Here we report the clinical data of a patient with late-onset Kjellin syndrome, a peculiar form of hereditary SPG with macular dystrophy. MATERIALS AND METHODS: Clinical, functional and multimodal retinal imaging data were collected. Genetic testing was performed by Whole Exome Sequencing (WES). RESULTS: A 52-year-old female patient with SPG of unknown origin was referred for a progressive visual acuity loss...

STUDY DESIGN: Using a cross-sectional design, we extracted sociodemographic and clinical data from 488 Spinal Cord Injury (SCI) patients during their initial assessment before receiving intensive rehabilitation treatment. OBJECTIVES: The primary objectives of this study were to ascertain the prevalence of cognitive impairment in the study sample and specify the key clinical and demographic predictors of cognitive functioning in SCI patients. SETTING: Lucy Montoro Rehabilitation Institute (LMRI), University of Sao Paulo, Sao Paulo, Brazil...

STUDY DESIGN: Cross-sectional study. OBJECTIVES: Determine how well common clinical assessments of level and completeness of injury are correlated with symptoms of autonomic blood pressure instability and secondary medical complications after spinal cord injury (SCI). SETTING: Academic medical center, United States. METHODS: Eighty-two individuals with (n = 48) and without (n = 34) SCI had symptoms of autonomic blood pressure instability quantified with the Autonomic Dysfunction Following SCI (ADFSCI) survey...

RATIONALE: Transverse spinal cord infarction (SCI) is rare but highly disabling. Aortic thrombosis was described as one of the most common etiologies. Thromboembolic complications associated with intravenous immunoglobulin (IVIG) have been reported. PATIENT CONCERNS: A previously well, 64-year-old man who was given the treatment of IVIG (0.4 g/kg/d for 5 days) for exfoliative dermatitis 2 weeks before, progressively developed flaccid paraplegia of lower extremities, loss of all sensations below T3 level and urinary incontinence within 50 minutes...

BACKGROUND: SPG18 is caused by mutations in the endoplasmic reticulum lipid raft associated 2 (ERLIN2) gene. Autosomal recessive (AR) mutations are usually associated with complicated hereditary spastic paraplegia (HSP), while autosomal dominant (AD) mutations use to cause pure SPG18. AIM: To define the variegate clinical spectrum of the SPG18 and to evaluate a dominant negative effect of erlin2 (encoded by ERLIN2) on oligomerization as causing differences between AR and AD phenotypes...