Sensory Loss Research Articles

Effect of Ankle Foot Orthosis (AFO) on kinematics in Children with Cerebral Palsy (CP)

Introduction: Children with cerebral palsy have impaired motor control, caused by prenatal and postnatal causes that affect the developing brain which leads to Muscle weakness, sensory loss, and stiffness Objective: To assess the efficacy of floor reaction orthoses (FRO) and solid ankle foot orthoses (AFO) with gait's temporospatial factors. Methodology: It was experimental based with custom molded Floor reaction orthosis and Solid ankle foot orthosis, the sampling technique was Non-probability Convenience sampling the targeted population was CP patients, and trials were taken from the patient. Results: FRAFO significantly improved patient cadence, velocity, stride time, stance, and swing phases compared to SAFO, with better improvement in kinetic dynamics and a decrease in stance and swing phases. Conclusion: FRAFO is more effective than SAFO.

Compound Heterozygous Loss of Allele Coding for KCNJ16 in an Adult Presenting as Recurrent Hypokalemic Periodic Paralysis with Metabolic Acidosis and Hypokalemia

A 20-year-old male presented with fever and rapidly progressive muscle weakness. He had hypokalemia and metabolic acidosis, suggesting renal tubular acidosis (RTA). Further investigation revealed distal RTA with preserved acidification. A channelopathy was suspected. Whole exome sequencing identified a novel biallelic mutation in the KCNJ16 gene, which encodes the Kir5.1 protein. This is the first reported case of an Indian adult with biallelic KCNJ16 mutations presenting as pure renal phenotype without sensory neural hearing loss or cardiac manifestation.

Association of Spouses’ Sensory Loss with Depressive Symptoms, Self-Reported Health, and Functional Disability Among Middle-Aged and Older Adults in China: A Cross-Sectional Study

ABSTRACT Objective To investigate cross-sectional associations between spouses’ sensory loss and depressive symptoms, self-rated health, and functional disability. Methods We included 10,410 individuals from the China Health and Retirement Longitudinal Study. We used the cross-sectional design and determined hearing loss, vision loss, and dual sensory loss by self-reports. We assessed depressive symptoms using the Center for Epidemiological Studies Depression Scale. We assessed self-reported health status using one item. Functional disability was defined as having difficulties in activities of daily living (ADL) and instrumental activities of daily living (IADL). Results Individuals with spouses’ dual sensory loss had a higher prevalence of depressive symptoms (45.19%), ADL (17.31%), and IADL impairments (21.97%) and a lower rate of self-rated good health (20.78%) than those with no or single loss. Spouse’s sensory loss was associated with depressive symptoms, self-rated health, ADL, and IADL impairments (p < .05). Husbands’ ADL impairments were associated with wives’ vision loss (p < .05). Wives’ IADL impairments were associated with husbands’ hearing loss (p < .05). Conclusions Spouses’ sensory loss was related to depressive symptoms, self-rated health, ADL, and IADL impairments. There was a gender specificity in the effect of spousal vision loss or hearing loss on ADL and IADL impairments.

Pregabalin for Neuropathic Pain and Itch in Recessive Dystrophic Epidermolysis Bullosa

Patients with recessive dystrophic epidermolysis bullosa (RDEB) experience neuropathic pain and itch. There is a lack of evidence on any treatment for these symptoms in patients with RDEB. To test the efficacy of pregabalin in the treatment of neuropathic pain and itch in patients with RDEB. A randomized, double-blinded, crossover trial of oral pregabalin (50-300 mg/d) vs placebo was conducted at 2 sites, Toronto (Canada) and Santiago (Chile) from January 1, 2019, to December 31, 2020. Patients eligible to participate were diagnosed with RDEB, aged 8 to 40 years, not pregnant or lactating (if female), and had evidence of probable neuropathic pain and itching defined as distal thermal sensory loss (confirmed by thermal roller), score of 4 or greater on the Douleur Neuropathique 4 questionnaire (DN4), and score greater than 4 on the 10-point visual analog scale [VAS]). Patients with a clinically important or poorly controlled medical or psychiatric condition or pregabalin intolerance or allergy were excluded. Of 41 patients screened, 3 were not eligible and 28 declined enrollment. Data analyses were performed in 2021 through 2023. Participants received both pregabalin and matched placebo (titrated to a maximum-tolerated dose of 300 mg/day) in a randomized sequence so that comparisons could be made within participants and between groups. Difference in the mean pain and itch scores between pregabalin and placebo treatment (measured using VAS) before and after intervention. In all, 10 participants were randomized to 2 groups, 6 patients (mean [SD] age, 26.7 [8.1] years; 3 females [50%]) in group 1, and 4 patients (mean [SD] age, 26.5 [7.8] years, 2 females [50%]) in group 2. Group 1 received a sequence of pregabalin-placebo while group 2 received placebo-pregabalin. Pregabalin significantly reduced mean (SD) pain scores by 1.9 (1.5) points when controlling for sequence and treatment period vs baseline, while placebo had 0.1 (2.0) points of reduction. The effect of pregabalin was a mild but significant reduction in itch compared to baseline (mean [SD] points, 0.9 [2.2]), whereas the placebo produced no reduction (0.1 [2.5]). The mean pregabalin dose was generally well tolerated. The results of this randomized crossover trial indicate that pregabalin significantly reduced pain and itch scores from baseline compared to placebo in patients with RDEB. This feasibility study provided preliminary data on the efficacy of pregabalin in managing pain and itch in RDEB and gathered essential data to inform the design of a larger cohort trial. ClinicalTrials.gov Identifier: NCT03928093.

Sensory assessment of intramuscular quadratus lumborum block at the L2 level in open inguinal hernia repair patients

BackgroundThe effectiveness of the quadratus lumborum block (QLB) for postoperative pain management depends on the injection pathway used. There is limited research on the block area produced by intramuscular injection of local anesthesia in the quadratus lumborum muscle. This study aimed to determine the cutaneous sensory blockade area produced by an intramuscular quadratus lumborum block (QLBi) at the L2 level.MethodsTwenty patients aged 18–60 years with ASA grade I-II and a BMI of 18–30 kg/m2 who were scheduled for open inguinal hernia repair with mesh underwent ultrasound-guided QLBi injection of 20 ml of 0.5% ropivacaine. The cutaneous sensory blockade area was measured by applying a cold stimulus 1 h after the block and then measured every hour after surgery until the sensation returned to normal. The duration of a blockade is defined as the time it takes for all affected areas to fully regain normal sensation following a blockade. Pain scores (numeric rating scale, NRS) were recorded at 2, 4, 8, 12, and 24 h after surgery. Adverse reactions to QLBi were recorded 24 h after surgery.ResultsAll 20 patients had reduced or lost cold sensation areas. The greatest extent of cold sensation reduction occurred at T7 (10%), and the least amount of cold sensation reduction occurred at L3 (10%). The block level covered T8 (20%), T9 (30%), T10 (45%), T11 (90%), T12 (95%), L1 (100%), and L2 (15%). Eighteen patients experienced areas of sensory loss, with the highest range at T11 and the lowest at L2. The duration of the blockade was 8.9 ± 3.8 h, with a maximum of 24 h and a minimum of 5 h. One patient experienced quadriceps weakness after surgery.ConclusionQuadratus lumborum block of intramuscular pathway can produce effective cutaneous sensory blockade, which can be used for postoperative analgesia of indirect inguinal hernia operation, and may also be beneficial to analgesia of other lower abdominal operations. However, the best method needs further confirmation to determine specific anesthesia methods for various operations.Chinese clinical trial registryJune 2, 2018; ChiCTR1800016457.

Tractography analysis results of the trigeminus nerve, which contains fibers responsible for proprioception sensation and motor control in Adolescent Idiopathic Scoliosis.

Cross-sectional Study. It is not yet clear whether the loss of proprioceptive sensation and muscle weakness seen in adolescent idiopathic scoliosis (AIS) is the result of central nervous system dysfunction or secondary to spinal deformity. In our study, in order to find an answer to this question, we examined the microarchitecture of the nervus trigeminus, which is least affected by spinal deformity and contains both proprioceptive sensory and motor fibers. In this single-center, cross-sectional cohort study, 40 Lenke Type 3 (27 female, 13 male) AIS patients and 40 (25 female, 15 male) healthy individuals between the ages of 10-18 years. Tractography of the nervus trigenimus was performed using the "DSI Studio" program. The volumes of the targeted musculus pterygoideus lateralis and musculus pterygoideus medialis were measured using the Insight Segmentation and Registration Tool Kit (ITK -SNAP) program. The data were evaluated using the Statistical Package for the Social Sciences 22.0 program for Windows. There was no significant difference between the two groups in terms of baseline characteristics (p˃0.05). Left nervus trigeminus fiber number and fiber ratio were significantly higher in the control group compared to the scoliosis group p < 0.05. Right and left lateral pterygoid muscle showed lower volume and volume percentage in the scoliosis group compared to the control group (p < 0.05). According to the study data, proprioceptive sensory and motor control dysfunction in AIS is predicted to develop independently of spinal deformity.

Congenital Insensitivity to Pain With Anhidrosis Is Associated With Harlequin Color Change: A Survey Study.

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy (HSAN) type IV, is an extremely rare autosomal recessive congenital condition characterized by the loss of sensation to pain and absence of sweating with one case report linking this with harlequin color change. To explore the relationship further, we developed a survey using the Research Electronic Data Capture software and distributed it to families and others with close relationships and knowledge of patients with CIPA. Our results indicate that harlequin color change, characterized by unilateral flushing of the face and/or body, was significant and noted by all respondents as being present early in the condition appearing around the same time as first symptoms and around or before diagnosis of CIPA. Future clinicians should be aware of this dermatological phenomenon and its potential association with CIPA patients, especially during early disease manifestation where diagnosis can be difficult.

Impact of dual sensory impairment on the risk of incident dementia: a protocol for a systematic review and meta-analysis

IntroductionStrong evidence supports the importance of potentially modifiable risk factors for dementia, with sensory loss, particularly visual and hearing impairment, being prominent among them. While single sensory impairment has been...

Atypical Sensory Loss Pattern in an Isolated Thalamic Stroke: A Case Report

Atypical Sensory Loss Pattern in an Isolated Thalamic Stroke: A Case Report

Post-Meningitic Syndrome: Pathophysiology and Consequences of Streptococcal Infections on the Central Nervous System.

Streptococcus species represent a significant global cause of meningitis, leading to brain damage through bacterial virulence factors and the host inflammatory response. Upon entering the central nervous system (CNS), excessive inflammation leads to various neurological and psychological complications. This review explores the pathophysiological mechanisms and associated outcomes of streptococcal meningitis, particularly its short- and long-term neurological sequelae. Neurological symptoms, such as cognitive impairment, motor deficits, and sensory loss, are shown to vary in severity, with children being particularly susceptible to lasting complications. Among survivors, hearing loss, cognitive decline, and cranial nerve palsies emerge as the most frequently reported complications. The findings highlight the need for timely intervention, including neurorehabilitation strategies that focus on optimizing recovery and mitigating long-term disabilities. Future recommendations emphasize improving early diagnosis, expanding vaccine access, and personalizing rehabilitation protocols to enhance patient outcomes. As a novel contribution, this review proposes the term "post-meningitic syndrome" to showcase the broad spectrum of CNS complications that persist following streptococcal meningitis, providing a framework for a future clinical and research focus.

Auditory and vestibular function in mitochondrial patients harbouring the m.3243A&amp;gt;G variant

Abstract Hearing impairment is a frequent clinical feature in patients with mitochondrial disease harbouring the pathogenic variant, m.3243A&amp;gt;G. However, auditory neural dysfunction, its perceptual consequences, as well as implications for patient management are not established. Similarly, the association with vestibular impairment has not yet been explored. This case-control study investigated in 12 adults with genetically confirmed m.3243A&amp;gt;G adults (nine females; 45.5±16.3 years [range 18–66]; 47.1±21.5dB hearing level, dB) compared to 12 age, sex, and hearing level matched controls with sensory (cochlear-level) hearing loss (nine females; 46.6±11.8 years [range 23–59]; 47.7±25.4 hearing level, dB). Participants underwent a battery of electro-acoustic, electrophysiologic and perceptual tests which included: pure tone audiometry, otoacoustic emissions, auditory brainstem responses, auditory temporal processing measures, monaural/binaural speech perception, balance and vestibular testing, and self-reported questionnaires (dizziness, hearing disability). Our findings showed evidence of auditory neural abnormality and perceptual deficits greater than expected for cochlear pathology. Compared with matched controls with sensory hearing loss, adults with mitochondrial disease harbouring m.3243A&amp;gt;G had abnormal electrophysiologic responses from the VIIIth nerve and auditory brainstem (P = 0.005), an impaired capacity to encode rapidly occurring acoustic signal changes (P = 0.005), a reduced ability to localise sound sources (P = 0.028) and impaired speech perception in background noise (P = 0.008). Additionally, vestibular dysfunction (P = 0.011), greater perceived dizziness (P = 0.001) and reduced stance time (balance) (P=0.009) were also seen in participants with m.3243A&amp;gt;G mitochondrial disease when compared to matched counterparts. This pilot study revealed that auditory evaluation, including evoked potential responses from the auditory nerve/brainstem and speech perception in noise tests should form an important part of the management for individuals with m.3243A&amp;gt;G-related mitochondrial disease. Those presenting with hearing impairment and symptoms concerning balance and dizziness should undergo vestibular testing and appropriate management.

Spinal subdural empyema in an immunocompetent patient: illustrative case.

Spinal subdural empyemas are a rare presentation of rapid neurological decline, progressing from radiculopathy to complete paralysis and sensory loss. Although pathogenic mechanisms have been hypothesized, their occurrence in this population of patients remains unclear. The authors present the third documented case of an isolated spinal subdural empyema of unclear etiology in an immunocompetent patient with no established risk factors. Successful treatment requires prompt clinical suspicion, radiological diagnosis, and surgical evacuation along with empirical antibiotic treatment. Radiological clarification of the subdural versus the epidural location of the empyema is difficult, while intraoperative durotomy for exploration risks subdural dissemination. In these cases, intraoperative ultrasonography would be a useful adjunct and decision aid. https://thejns.org/doi/10.3171/CASE24464.

Verbal and Spatial Working Memory Capacity in Blind Adults and the Possible Influence of Age at Blindness Onset: A Systematic Review and Meta-analysis.

The loss of a sense, such as vision, forces individuals to adapt to their environment and its demands in a variety of ways. In the case of blindness, significant neurofunctional and cognitive changes have been documented. However, there is no clear consensus on the differences in performance between adult blind participants and sighted controls in cognitive processes such as working memory (WM). Two variables are important, including the cognitive task used to measure working memory and the age at which vision loss occurs. This review is aimed at exploring potential disparities in verbal and spatial WM performance between blind and sighted adults, as well as understanding how these differences may be influenced by the age of vision loss. A systematic search across PsycArticles, PsycInfo, Medline, and Web of Science databases identified 21 pertinent studies. The studies were categorized, and effect sizes were calculated through meta-analysis, distinguishing between verbal (auditory simple forward and backward span, complex span, and n-back) and visuospatial WM tasks (adapted Corsi-block and simple storage tasks, imagery tasks, and complex storage tasks). Visual sensory loss induces adaptations affecting WM function in blind participants. In the verbal domain, improved phonological processing and/or serial item position encoding might facilitate WM retrieval. In contrast, in spatial WM, an over-reliance on serial processing may hinder strategic grouping in blind individuals. This review highlights the need to further explore the role of age at the time of vision loss. Although evidence suggests that adaptations to serial processing may be more pronounced in early development, particularly in comparison to those who become blind in adulthood, the available data are limited. The study calls for further research to deepen our understanding of cognitive adaptations and their temporal dynamics in response to vision loss.

SMALL FIBER NEUROPATHY DIAGNOSIS IN PARKINSON'S DISEASE PATIENTS: A CASE SERIES

Parkinson’s disease (PD) is a progressive neurodegenerative disorder characterized by both motor and non-motor symptoms. Motor impairments, particularly in gait and balance, significantly reduce the quality of life in patients, increasing the risk of falls. Non-motor symptoms, including autonomic dysfunctions and peripheral neuropathy, are prevalent as the disease progresses. Peripheral neuropathy, present in 55% of PD patients, manifests with sensory loss, postural instability, and pain, further impairing motor function and increasing fall risk. This study aimed to adapt and test a simple method to identify small fiber neuropathy in PD patients, specifically using the Skin Wrinkling Test (SWT), and to correlate its findings with autonomic dysfunctions. Four PD patients were evaluated using questionnaires (Non-Motor Symptoms Questionnaire, COMPASS-31) and SWT. All patients showed alterations in the SWT, suggesting the presence of small fiber neuropathy, regardless of disease duration or comorbid conditions such as diabetes. Despite the small sample size, our findings support the SWT as a practical tool for assessing small fiber neuropathy in clinical practice. Further large-scale studies are needed to validate these results and their implications for diagnosing peripheral neuropathy in PD patients.

Human dorsal root ganglia are either preserved or completely lost after deafferentation by brachial plexus injury

BackgroundPlexus injury results in lifelong suffering from flaccid paralysis, sensory loss, and intractable pain. For this clinical problem, regenerative medicine concepts set high expectations. However, it is largely unknown how dorsal root ganglia (DRG) are affected by accidental deafferentation. MethodsHere, we phenotyped DRG of a clinically and MRI-characterised cohort of 13 patients with plexus injury. Avulsed DRG were collected during reconstructive nerve surgery. For control, we used DRG from forensic autopsy. The cellular composition of the DRG was analysed in histopathological slices with multicolour high-resolution immunohistochemistry, tile microscopy, and deep-learning-based bioimage analysis. We then sequenced the bulk RNA of corresponding DRG slices. ResultsIn about half of the patients we found loss of the typical DRG units consisting of neurones and satellite glial cells. The DRG cells were replaced by mesodermal/connective tissue. In the remaining patients, the cellular units were well preserved. Preoperative plexus MRI neurography was not able to distinguish the two types. Patients with ‘neuronal preservation’ had less maximum pain than patients with ‘neuronal loss’. Arm function improved after nerve reconstruction, but severe pain persisted. Transcriptome analysis of preserved DRGs revealed expression of subtype-specific sensory neurone marker genes, but downregulation of neuronal attributes. Furthermore, they showed signs of ongoing inflammation and connective tissue remodelling. ConclusionsPatients with plexus injury separate into two groups with either neuronal preservation or neuronal loss. The former could benefit from anti-inflammatory therapy. For the latter, studies should explore mechanisms of neuronal loss especially for regenerative approaches. Clinical trial registrationDRKS00017266.

A RETREG1 variant is associated with hereditary sensory and autonomic neuropathy with acral self-mutilation in purebred German Spitz.

Hereditary sensory and autonomic neuropathies (HSAN) represent a group of genetic diseases affecting the peripheral nervous system. In humans, at least 16 loci have been associated with the disorder but do not explain the disease origin of all patients. In dogs, similar conditions have been documented for decades in various breeds with a severe impact on life quality and are often referred to as acral mutilation syndrome (AMS). Causal variants in three genes have been identified to date, suggesting larger genetic heterogeneity in the dog population. Our aim was to explain the genetic etiology of an early-onset HSAN/AMS in a purebred German Spitz. The affected dog showed progressive loss of pain sensation in the distal extremities, which led to intense licking, biting, and self-mutilation of digits and paw pads. Whole-genome sequencing identified a single candidate causal variant on chromosome 4 in the RETREG1 gene (c.656C>T, p.Pro219Leu). This missense variant was previously recognized as deleterious in a mixed breed dog family with similar clinical signs. Haplotype analyses and targeted genotyping revealed a likely German Spitz ancestry of these mixed breed dogs. Further screening of an extensive cohort of ~900 000 dogs of various breeds hinted at the variant allele origin in the German Spitz breed. Disruption of RETREG1 inhibits endoplasmic reticulum turnover and leads to neuron degeneration. Our findings provide evidence that this variant underlies the recessive form of HSAN/AMS in the German Spitz and support the use of whole-genome sequencing-based veterinary precision medicine for early diagnosis and prevention via a genetic test.

Complete Recovery After Thoracic Endovascular Aortic Repair for Type a Aortic Dissection With Cerebral Malperfusion: A Case Report.

A 52-year-old woman presented with chest pain, shortness of breath and loss of sensation in her left limbs. Computed tomography angiography revealed an type A aortic dissection involving the brachiocephalic trunk and right common carotid artery. Endovascular therapy successfully managed the condition by reconstructing the artery and occluding the false lumen.

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Biallelic variants in the ERLIN1 gene were recently reported as the cause of two motor neuron degeneration diseases, SPG62 and a recessive form of amyotrophic lateral sclerosis. However, only 12 individuals from five pedigrees have been identified so far. Thus, the description of the disease remains limited. Following the discovery of a homozygous pathogenic variant in a girl with SPG62, presenting with intellectual disability, and epilepsy, we gathered the largest series of SPG62 cases reported so far (13 individuals) to better understand the phenotype associated with ERLIN1. We collected molecular and clinical data for 13 individuals from six families with ERLIN1 biallelic variants. We performed RNA-seq analyses to characterize intronic variants and used Alphafold and a transcripts database to characterize the molecular consequences of the variants. We identified three new variants suspected to alter the bell-shaped ring formed by the ERLIN1/ERLIN2 complex. Affected individuals had childhood-onset paraparesis with slow progression. Six individuals presented with gait ataxia and three had superficial sensory loss. Aside from our proband, none had intellectual disability or epilepsy. Biallelic pathogenic ERLIN1 variants induce a rare, predominantly pure, spastic paraparesis, with possible cerebellar and peripheral nerve involvement.

Diabetic Neuropathy: A Guide to Pain Management.

Diabetic neuropathy is a common complication of diabetes mellitus (DM) and can affect up to 50% of DM patients during their lifetime. Patients typically present with numbness, tingling, pain, and loss of sensation in the extremities. Since there is no treatment targeting the underlying mechanism of neuropathy, strategies focus on preventative care and pain management. Up to 69% of patients with diabetic neuropathy receive pharmacological treatment for neuropathic pain. The United States Food and Drug Administration (FDA) confirmed four drugs for painful diabetic neuropathy (PDN): pregabalin, duloxetine, tapentadol, and the 8% capsaicin patch. Nonpharmacological treatments such as spinal cord stimulation (SCS) and transcutaneous electrical nerve stimulation (TENS) both show promise in reducing pain in DM patients. Despite the high burden associated with PDN, effective management remains challenging. This update covers the background and management of diabetic neuropathy, including its epidemiology, pathogenesis, preventative care, and current therapeutic strategies.

Protective effects of Boswellia and Curcuma extract on oxaliplatin-induced neuropathy via modulation of NF-κB signaling

Oxaliplatin is a third-generation anticancer agent with better efficacy, lower toxicity, and a broad spectrum of antineoplastic activity. Its use is frequently associated with chronic oxaliplatin-induced neuropathy (OIN), a cumulative phenomenon manifesting as loss of sensation, paresthesia, dysesthesia, and irresolvable fluctuations in proprioception that greatly affect the patients’ quality of life. The inevitable nature and high incidence of OIN, along with the absence of efficacious preventive agents, necessitate the development of effective and reliable protective options for limiting OIN while maintaining anticancer activity. The pathogenesis of chronic OIN involves neuroinflammation and oxidative stress. This study aimed to explore the neuroprotective effects of Boswellia serrata and Curcuma longa via modulation of nuclear factor-kappa B (NF-κB) signaling. Behavioral tests were conducted to assess cold allodynia, heat hyperalgesia, mechanical allodynia, mechanical hyperalgesia, and slowed nerve conduction velocity associated with chronic oxaliplatin administration. The modulation of NF-κB signaling and the subsequent activation of cytokines were evaluated through quantitative analysis of inflammatory cytokines in sciatic nerve homogenates. Additional assessments included oxidative stress parameters, serum neuronal biomarkers, and examination of sciatic nerve cross-sections. The findings indicate improvements in behavioral and biochemical parameters, as well as nerve histology, with the combined extract of Boswellia serrata and Curcuma longa at doses of 50 mg/kg and 75 mg/kg. Thus, this study presents evidence for the protective potential of the combined extract of Boswellia serrata and Curcuma longa in OIN through modulation of NF-κB signaling.