Search Results (210)

Aim: To compare diabetic polyneuropathy (DPN) and cardiac autonomic neuropathy (CAN) between T1DM and T2DM patients. Methods: This study enrolled 66 T1DM and 79 T2DM patients. DPN was evaluated using three different methods: clinical examination, using neuropathy symptom score (NSS) and neuropathy disability score (NDS), current perception threshold (CPT) using Neurometer, and nerve conduction studies (NCSs). CAN was assessed by cardiovascular autonomic reflex tests (CARTs). Results: The prevalence of DPN did not differ between T1DM and T2DM (p > 0.05 for all), however, the proportion of DPN depended on the method used and was highest with CPT (53.0% vs. 46.8%), followed by NCSs (44.1% vs. 41.2%) and clinical examination (25.8% vs. 31.6%). T2DM vs. T1DM patients were more often diagnosed with painful DPN (51.9% vs. 27.3%, p = 0.004), reduced perception of vibration (72.2% vs. 48.5%, p = 0.006), and autonomic neuropathy (59.5% vs. 32.3%, p = 0.001), while NCSs revealed more prevalent motor nerve dysfunction in T1DM compared to T2DM (41.2% vs. 19.6%). Multivariate regression analysis showed increased DPN risk with age and CAN risk with worsening of eGFR in T1DM. No significant associations remained after multivariate adjustment for T2DM. Conclusions: The prevalence of DPN is highly varied and depends on the diagnostic method used. T2DM patients more often had symptoms and signs of diabetic neuropathy. However, stronger associations with risk factors were observed in T1DM. Full article

Background/Objectives: The co-existence of multiple compression sites on the same nerve can pose a clinical and diagnostic challenge, warranting a different treatment strategy. This so-called double crush syndrome (DCS) has mainly been investigated in the upper limb. Only a few studies have investigated DCS for the lower limb. In this article, a single-center illustrative clinical case series is presented, and current literature on L5 nerve root (NR) and concomitant common peroneal nerve (CPN) is reviewed. Methods: All patients presenting between 2019 and 2022 with L5 nerve root (NR) compression and, along their clinical courses, concomitant compression of the common peroneal nerve (CPN) at the fibular head were included. Information on clinical features, diagnostics and surgeries was obtained. The outcome was assessed at the last outpatient follow-up appointment. In addition, an extensive literature review has been conducted. Results: Fourteen patients were included with a mean follow-up of 6.8 months. The majority had pain (71%) or motor deficits (71%). Seven patients were referred for clinical and radiological L5 NR compression but were also found to have CPN compression; the other seven patients had persisting or recurrent symptoms after surgically or conservatively treated L5 NR compression, suggestive of additional peroneal neuropathy. All patients had CPN decompression at the fibular head, with successful results obtained in 93% of the patients. Pain of the lower leg improved in all patients, and dorsiflexion function improved in 78%. Conclusions: Concomitant L5 NR and CPN appear to occur more frequently than expected. Peroneal neuropathy can present simultaneously with L5 nerve radiculopathy or after surgically or conservatively treated L5 NR compression. Overlapping symptoms and variation in clinical presentations make it difficult to diagnose and, therefore, underrecognized. More awareness among treating physicians of this specific double crush syndrome is important to prevent any delay in treatment, in this case, a less invasive common peroneal nerve release at the fibular head, and to avoid unnecessary (additional) spinal surgery. Full article

Background: Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy that affects foot morphology and gait patterns, potentially leading to abnormal plantar pressure distribution. This systematic review synthesizes the existing literature examining plantar pressure characteristics in CMT patients. Methods: A comprehensive search was conducted across PubMed, Scopus, and Web of Science databases. Risk of bias was assessed using the Newcastle–Ottawa Scale. Results: Six studies comprising 146 patients were included. Four studies employed dynamic baropodometry, and two used in-shoe pressure sensors to evaluate the main plantar pressure parameters. The findings were consistent across different populations and devices, with a characteristic plantar-pressure profile of marked midfoot off-loading with peripheral overload at the forefoot and rearfoot, often accompanied by a lateralized center-of-pressure path and a prolonged pressure–time exposure. These alterations reflect both structural deformities and impaired neuromuscular control. Interventional studies demonstrated a load redistribution of pressure after corrective surgery, though residual lateral overload often persists. Conclusions: Plantar pressure mapping seems to be a valuable tool to identify high-pressure zones of the foot in order to personalize orthotic treatment planning, to objectively monitor disease progression, and to evaluate therapeutic efficacy. Further longitudinal studies with standardized protocols are needed to confirm these results. Full article

Background: This scoping review aims to map and summarise physical therapy interventions specifically targeting gait and balance in individuals with Charcot-Marie-Tooth disease (CMT), highlighting commonly applied strategies, methodological limitations, and clinical implications. Charcot-Marie-Tooth disease (CMT) is a hereditary neuropathy characterised by progressive motor and sensory impairment, often resulting in reduced mobility, muscle weakness, balance deficits, and fatigue. Although pharmacological options remain limited, rehabilitation is increasingly recognised as a key component of disease management. However, the scope, type, and effectiveness of rehabilitative interventions in CMT remain poorly mapped. Methods: This scoping review was conducted in accordance with the Joanna Briggs Institute (JBI) methodology and the PRISMA-ScR guidelines. Five databases (PubMed, Cochrane, PEDro, Scopus, and Web of Science) were systematically searched up to March 2024. Studies were eligible if they involved participants with CMT undergoing rehabilitation interventions aimed at improving functional outcomes. Data extraction focused on study characteristics, methods, outcome measures, and results. Results: Eleven studies met inclusion criteria, comprising case reports, cohort studies, and two randomised controlled trials. Interventions included aerobic training, strength and balance exercises, videogame-based home programmes, and multidisciplinary rehabilitation. Most studies reported improvements in walking capacity (e.g., 6MWT, 10MWT), postural balance (e.g., BBS), and lower limb strength (e.g., MRC, dynamometry). Some also showed positive changes in fatigue and quality of life, though data were limited. Methodological heterogeneity and small sample sizes limited comparability and generalisability. Conclusions: Rehabilitation appears to yield meaningful improvements in key functional domains in people with CMT. Tailored, multimodal interventions show promise, though long-term benefits remain underexplored. Future research should adopt standardised protocols and outcome measures to better define best practices and optimise patient care. Full article

Diabetic peripheral neuropathy (DPN), a common complication of type 2 diabetes mellitus (T2DM), significantly impairs postural control and increases fall risk due to sensory and motor nerve dysfunction. While conventional rehabilitation is widely used, the effectiveness of technology-assisted balance training remains underexplored. This quasi-experimental study aimed to compare the impact of Biodex Balance System (BBS)-based training versus traditional exercises on balance and coordination in patients with DPN. Thirty patients with T2DM and clinically confirmed DPN were allocated into two groups (n = 15 per group): the intervention group (BBS training) and the control group (traditional exercises). Both groups trained for 8 weeks. Static balance was assessed using stability indices and clinical balance tests. Statistical analysis included paired and independent t-tests, Shapiro–Wilk tests for normality, and Cohen’s d for effect size. The BBS group demonstrated statistically significant improvements across all balance measures compared to the control group. For the most challenging condition (unstable surface, eyes closed), the mean balance index improved by 0.66° (p < 0.001; Cohen’s d = 14.25). Substantial improvements were also observed for the stable surface (eyes open: Δ = 0.34°, p < 0.001, d = 4.01) and unstable surface (eyes open: Δ = 0.23°, p < 0.001, d = 7.46). Control group gains were modest and less consistent. Balance training using the Biodex Balance System significantly enhances static balance and postural control in patients with diabetic neuropathy, outperforming traditional rehabilitation methods. These findings support integrating the BBS into structured diabetic care programs to reduce fall risk and improve functional stability. Full article

Background/Objectives: Carpal tunnel syndrome (CTS) is a common entrapment neuropathy. Traditional diagnostics like EMG and NCSs are invasive and do not visualize nerve morphology. This study aims to evaluate the diagnostic and prognostic value of high-resolution ultrasonography in patients with CTS using a standardized scanning protocol and to evaluate the relationship between sonographic findings and traditional electrodiagnostic results. Methods: In this observational study with both prospective and retrospective components, 31 subjects were included. Between November 2023 and June 2024, 11 symptomatic CTS patients were scheduled for surgical decompression and 14 healthy controls were prospectively enrolled. Additionally, six post-surgical CTS patients who had undergone decompression between 2016 and 2021 were retrospectively included for comparative analysis. All underwent clinical and ultrasonographic assessments of the median nerve at predefined anatomical landmarks. EMG was performed in the CTS groups. Ultrasound was repeated at 1, 3, and 6 months postoperatively to monitor morphological changes. Results: CTS patients had significantly increased the median nerve CSA compared to controls. Postoperative ultrasound showed progressive CSA reduction correlating with clinical improvement and EMG recovery. The CSA correlated moderately to strongly with distal motor latency. Conclusions: High-resolution ultrasound is a reliable, non-invasive tool for diagnosing and monitoring CTS. Standardized protocols are needed to support broader clinical adoption and establish it as a standalone diagnostic method. Full article

Background/Objectives: The Wartenberg sign is a diagnostic feature of ulnar nerve neuropathy. It results from unbalanced activity of the abductor digiti minimi (ADM) and extensor digiti minimi (EDM) muscles secondary to weakness of the third palmar interosseous muscle. Rarely, this sign may occur in the absence of an underlying ulnar neuropathy, which we refer to as the “pseudo Wartenberg sign” (PWS). Methods: This is a retrospective review of 10 patients manifesting an inability to adduct the little finger towards the ring finger with no evidence of an ulnar neuropathy. We describe the clinical and electrodiagnostic (EDX) findings in these patients and discuss the pathophysiologic basis of PWS. Results: The most common cause was an injury in five (50.0%) patients: avulsion of the third volar interosseous muscle in two (20.0%), contracture of the ADM muscle in one (10.0%), and trauma-related dystonia in two (20.0%). The most frequent mechanism of PWS was focal dystonia of specific hand muscles in seven (70.0%) patients. Needle electromyography (EMG) demonstrated no denervation changes in ulnar nerve-innervated hand muscles; the motor and sensory conduction was normal in the ulnar nerve in all patients. Four (40.0%) patients underwent ultrasound studies, with a hyperechoic, avulsed third volar interosseous muscle in one, a hyperechoic and atrophic ADM muscle in one, normal hypothenar and extensor muscles in one, and a normal hypothenar muscle in one. Conclusions: Neurologists, neurosurgeons, and hand and orthopedic surgeons should be aware of the rare cases in which the inability to adduct the little finger may occur in the absence of ulnar neuropathy and look for other causes like avulsion of the third palmar interosseus muscle or focal hand dystonia. Full article

Background: Previous studies have indicated that transcutaneous electrical nerve stimulation (TENS) is highly effective in improving the treatment of neuropathy and achieving maximum recovery in the shortest time. However, its effectiveness in the early stages of the disease has not been studied, and no comparative analysis has been conducted between different modalities of TENS. Materials and Methods: This study included 82 patients with acute and subacute fibular tunnel (FT) syndrome lasting no more than 15 days. Patients were randomized into the following four groups depending on the modality of TENS used: sham TENS (20 patients), HF TENS (20 patients), LF TENS (21 patients), and a combined HF/LF TENS group (21 patients). Before treatment, immediately after treatment, and 3 months after the end of treatment patients were examined to determine the severity of hypoesthesia, motor deficit, and gait disturbance. Results: The reduction in hypoesthesia averaged after HF TENS, LF TENS, and sham TENS was 50.7% (p ≤ 0.01), 37.8 (p ≤ 0.01), and 11.4% (p > 0.05), respectively. The regression of motor deficit and gate disorders reached 61% after LF TENS (p ≤ 0.01), 6% after HF TENS (p > 0.05), and 6% (p > 0.05) after sham TENS. The combination of HF and LF TENS resulted in a 54.8% (p ≤ 0.01) reduction in hypoesthesia and 61.3% (p ≤ 0.01) regression of motor deficit, with a superior 30% (p ≤ 0.05) improvement in quality of life compared to separate use of HF and LF TENS. Conclusions: Early use of TENS in the treatment of FT syndrome turned out to be highly effective compared to sham TENS in reducing hypoesthesia, motor deficit, and gait disturbance. The analgesic effect and sensory recovery were higher after HF TENS. Motor and gait disturbances were reduced only after LF TENS, with evidence of prolonged regenerative and protective effect for at least 3 months after the end of treatment. The combination of HF TENS and LF TENS increases the therapeutic range of TENS with the achievement of the maximum positive effect of HF TENS and LF TENS after treatment and during the long-term period, which leads to a more pronounced improvement in the quality of life of patients with this pathology. Full article

Chemotherapy-induced peripheral neuropathy (CIPN) is a painful condition recalcitrant to current available therapies. CIPN pain can be severe and dose-limiting or dose-reducing for life-extending chemotherapeutics and, to date, there is no treatment to alter the progression of CIPN. For these experiments we used docetaxel, a first-line therapy for metastatic prostate cancer in humans and investigated the soluble epoxide hydrolase inhibitor EC5026 for its analgesic efficacy against this CIPN pain. Male SD rats (n = 10/group) were pretreated with 1 mg/kg EC5026 in formulated drinking water or vehicle for one week prior to docetaxel injections. The rats continued the formulated drinking water during three once-a-week docetaxel 10 mg/kg i.p. injections and were maintained on treatment until the end of week 5 when all groups were transitioned to normal drinking water. Nociceptive testing occurred throughout the entire experiment including after transitioning to normal drinking water. EC5026 increased mechanical withdrawal thresholds and latencies on the cold plate compared to docetaxel-treated controls. There were no motor effects of the compound, and the formulated drinking water provided favorable exposure. These results demonstrated that EC5026 administered prophylactically was both analgesic and able to limit the severity of mechanical and cold sensitivities in the docetaxel CIPN rat model. Full article

Objectives: We aimed to compare well-known ultrasound protocols for inflammatory polyneuropathies in a single cohort. Methods: High-resolution ultrasound was performed according to the Bochum ultrasound score (BUS)/neuropathy ultrasound protocol (NUP), ultrasound pattern sum score (UPSS), and EAN/PNS suggested protocol for patients with chronic (CIDP) and acute inflammatory polyneuropathies (AIDP), multifocal motor neuropathies (MMN) and healthy controls. The upper boundaries were adjusted according to our laboratory normative values to all above-mentioned protocols; additionally, another calculation was performed using the peripheral nerve size values officially proposed by EAN/PNS. Results: We enrolled a total of 189 subjects (105 males and 84 females), comprising 40 patients with CIDP, 13 with MMN, 11 with AIDP, and 125 healthy controls. The mean ages were 62.49 years (range 37–84 years) for the CIDP patients; 55.92 years (range 32–71 years) for the MMN patients; 68.09 years (range 51–88 years) for the AIDP patients; and 49.02 years (range 25–80 years) for the healthy controls. Using the EAN/PNS protocol bilaterally, 72.9% of CIDP cases were identified. When the adjusted EAN/PNS protocol was applied, the detection rate rose to 100%, with a sensitivity of 100%. Both the adjusted BUS/NUP and UPSS protocols demonstrated a specificity of 90% in diagnosing CIDP. EAN/PNS protocol detected 69.23% of MMN cases measured unilaterally and had a 100% sensitivity to distinguish MMN, while the UPSS protocol had the highest specificity (96%). In AIDP cases, the adjusted EAN/PNS protocol identified 90.90% of cases through unilateral or bilateral measurements, with sensitivity 91% and specificity 88%. Conclusions: The EAN/PNS protocol was the most valuable in the detection of treatable states, and the BUS/NUP, UPSS protocols were the most valuable in the differentiation of specific inflammatory polyneuropathies. Full article

Background: Neuralgic amyotrophy (NA), also known as Parsonage–Turner syndrome, brachial neuritis, and idiopathic brachial plexopathy, is a rare and potentially debilitating peripheral nerve disorder characterized by acute-onset shoulder pain followed by progressive motor deficits. It is often under-recognized, with an estimated incidence of 1 to 3 per 100,000 annually, though some studies suggest the actual prevalence may be significantly higher. The condition typically progresses through three phases, an acute painful phase, a phase of weakness, and a recovery phase, with sensory disturbances common in addition to motor weakness. The exact pathogenesis of NA remains unclear, though it is thought to involve a combination of genetic, environmental, and immunological factors. While neurologic complications following hematopoietic stem cell transplantation (HSCT), such as neuropathies and myopathies, have been documented, NA remains exceedingly rare in this context, with only a few reported cases. The pathophysiology in HSCT patients is hypothesized to involve immune dysregulation, graft-versus-host disease (GvHD), infection, and the effects of immunosuppressive therapy. Diagnosis is primarily clinical, supported by electrodiagnostic studies and MRI, though no laboratory markers exist. The management of NA is largely supportive and multimodal, focusing on pain control and rehabilitation. Objectives: The objective of this study was to describe the characteristics, clinical course, and outcomes of patients admitted for HSCT who were subsequently diagnosed with NA. Study Design: This retrospective case series from a single institution examined nine (N = 9) patients who developed acute shoulder pain following HSCT. We collected data on demographics, transplant details, clinical features, MRI findings, and electrodiagnostic studies, summarized using descriptive statistics. The diagnosis of neurologic amyotrophy was based on clinical presentation and corroborated by imaging and electrodiagnostic results. Long-term follow-up was assessed to evaluate symptom recovery. Results: Between August 2020 and July 2022, nine patients (44% male, median age 60) were diagnosed with NA following autologous (n = 4) or allogeneic (n = 5) HSCT. The onset of severe shoulder pain occurred at a median of 9 days post-transplant (range 1–21 days), with the majority of patients experiencing unilateral pain, predominantly affecting the right shoulder (55%). Neurologic weakness developed on average 5.1 days after pain onset, and sensory deficits were observed in all but one patient. MRI findings revealed muscle edema, atrophy, and enhancement in six patients, while electromyography confirmed NA in five. Due to the small sample size, statistical analyses, including p-values, confidence intervals, and trend comparisons, were not performed, and thus no conclusions can be drawn regarding associations between variables such as early onset and worse outcomes. Shoulder pain resolved after a median of 23 days (range 8–40 days). Long-term follow-up (>1 year) showed that three patients achieved full or near-full recovery, four partially recovered, and two showed minimal improvement. Conclusions: NA should be highly suspected in patients with acute shoulder pain and neurologic symptoms post-HSCT. To improve diagnostic accuracy and clinical outcomes, we recommend enhanced clinician awareness, the implementation of targeted diagnostic protocols (such as MRI and electrodiagnostic studies), and the establishment of standardized long-term follow-up protocols. Full article

Introduction: Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disorder characterized by progressive muscle weakness, along with muscle cramps, tremors, and sensory neuropathy. Previous research has shown that patients with SBMA have difficulty with dynamic balance and sensory postural control during quiet stance. There have been no reports on automatic postural reactions in SBMA. Objectives: In this study, we aimed (1) to augment previous findings of sensory postural control, (2) to investigate automatic postural reactions in SBMA, and (3) to explore the relationship between strength and balance. Design: A cross-sectional design was used for the analysis. Participants: The participants were fifty male individuals with a confirmed diagnosis of SBMA. Outcome Measures: Balance testing included the NeuroCom modified Clinical Test of Sensory Interaction on Balance (mCTSIB), which measures sway velocity during quiet stance, and the NeuroCom Motor Control Test (MCT), which measures the latency and strength of postural reactions following sudden perturbations. Strength testing included maximal voluntary isometric contractions measured via fixed-frame dynamometry. Results: Forty-seven out of fifty participants were able to complete the mCTSIB test, but only thirty-eight completed the MCT test. Patients who were unable to complete the MCT were significantly weaker in all lower extremity muscles compared to those who were able to complete testing. Compared to normative data, participants showed significantly higher sway velocity during quiet stance across all conditions of the mCTSIB, except when standing on foam with eyes open. They also exhibited significantly slower postural reactions in response to sudden shifts of the force plate on the MCT. Plantarflexor weakness was significantly correlated with poor postural control on the mCTSIB and MCT. Conclusions: This study confirms previously reported abnormalities of sensory postural control in SBMA and highlights patients’ heavy reliance on visual inputs for postural control. Additionally, this study shows that automatic postural corrections are slower than normal in SBMA and provides a unique approach for measuring the combined sensory and motor components of the disease. Both the sensory and automatic balance abnormalities were found to be associated with plantarflexor weakness and may contribute to a higher risk of falls under challenging situations. Therefore, addressing this weakness may be an important step toward fall prevention in this population. Full article

Pontocerebellar hypoplasia is a rare neurodegenerative syndrome characterized by severe hypoplasia or atrophy of pons and cerebellum that may be associated with other brain malformations, microcephaly, optic nerve atrophy, dystonia, ataxia and neuromuscular disorders. At this time, there are 17 variants of PCH distinguished by clinical presentation and distinctive radiological and biochemical features in addition to pontine and cerebellar hypoplasia. PCH1 is defined as PCH variant associated with anterior horn degeneration in the spinal cord with muscle weakness and hypotonia, and is associated with recessive variants in genes VRK1, EXOSC3, EXOSC8, EXOSC9 and SLC25A46. Neuromuscular manifestations may clinically present as amyotrophic lateral sclerosis (ALS), motor neuropathy (HMN) or neuronopathy (non-5q spinal muscular atrophy; SMA) or sensorimotor polyneuropathy (HMSN). Physiologic functions of PCH1-associated genes include regulation of RNA metabolism, mitochondrial fission and neuronal migration. Overall, complex phenotypes associated with PCH1 gene variants ranging from PCH and related neurodevelopmental disorders combined with neuromuscular disorders to isolated neuromuscular disorders have variable outcomes with isolated neuromuscular disorders typically having later onset with better outcomes. Improved understanding of pathogenesis of pontocerebellar hypoplasia and its association with motor neuronopathies and peripheral neuropathies may provide us with valuable insights and lead to potential new therapeutic targets for neurodegenerative disorders. Full article

Diabetic peripheral neuropathy (DPN) is a chronic complication of diabetes mellitus for which effective treatments remain undeveloped. Metabolic changes and inflammation are proposed as primary mechanisms underlying DPN pathogenesis. Our previous studies demonstrate that exogenous pyruvate plays a crucial role in maintaining glycolysis-tricarboxylic acid cycle flux under high-glucose conditions and also exhibits anti-inflammatory properties. To evaluate its therapeutic potential, we assessed whether pyruvate administration could restore DPN in vivo and in vitro. We assessed casual blood glucose levels, body weight, motor and sensory nerve conduction velocities, mechanical sensitivity, and intraepidermal nerve fiber density in streptozotocin-induced diabetic C57/BL/6J mice that received drinking water with or without sodium pyruvate (10 mg/mL) from 2 to 13 weeks after diabetes induction. In addition, we evaluated neurite length in ND7/23 cells, a dorsal root ganglion neuron cell line, under high-glucose conditions. Pyruvate administration in diabetic mice alleviated mechanical sensitivity deficits and improved intraepidermal nerve fiber density. Additionally, neurite length in ND7/23 cells was inhibited under high-glucose conditions but was fully restored by supplementation with high concentrations (10 mM) of pyruvate. These findings suggest that exogenous pyruvate may be a promising therapeutic candidate for DPN. Full article

Background and Objectives: Neuropathy is a debilitating disorder characterized by peripheral nerve dysfunction and damage to sensory, motor, and autonomic neurons and their axons. While homozygous mutations in DNAJB2/HSJ1 have been linked to early-onset neuropathy, a heterozygous DNAJB2 c.823+6C>T was discovered in an adult patient with severe sensory–motor polyneuropathy. This mutation is predicted to affect both isoforms of the protein. DNAJB2 (HSP40), a key member of the heat shock protein family, plays a critical role in cellular protection and stress, including response to heat shock. DNAJB2 traffics unfolded proteins to another heat shock protein, HSP70, and activates its ATPase activity to result in a correctly folded protein(s). In this study, we aimed to investigate the effects of the heterozygous DNAJB2 c.823+6C>T mutation on the stress response of DNAJB2 in fibroblasts obtained from the neuropathy patient. Methods: The fibroblasts were subjected to one hour of heat shock at 42 °C, and the time course of expression levels of DNAJB2 was established. Additionally, we evaluated the therapeutic efficacy of Cystamine, which has been shown to modulate DNAJB2 levels in cellular and animal models of Huntington’s disease. Results: Our results revealed reduced baseline levels of DNAJB2 between the mutant and control fibroblasts. Importantly the mutant cells exhibited a diminished response to heat shock. Thus, the mutation affects the upregulation of DNAJB2 under stress, possibly contributing to the pathogenesis of sensory–motor polyneuropathy. A 48-h pretreatment with 150 μM of Cystamine increased the levels of DNAJB2 in both the control and patient’s fibroblasts. Conclusions: To the best of our knowledge, this is the first study to explore this mutant form of DNAJB2 in neuropathy. The study demonstrated that the heterozygous DNAJB2 c.823+6C>T mutation leads to impaired DNAJB2 response to heat shock in the fibroblasts. Cystamine showed promise in restoring DNAJB2 expression, highlighting the need for further research into targeted therapeutic strategies for DNAJB2-related disorders. Full article