Journal of the Neurological Sciences最新文献

{"title":"Transforming healthcare: User-friendly digital health technologies in the era of Society 5.0","authors":"","doi":"10.1016/j.jns.2024.123171","DOIUrl":"10.1016/j.jns.2024.123171","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141913098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Power modulation spectrum – a promising approach for the indispensable quality control of electrocardiogram signals from monitoring units for the detection of autonomic dysfunction","authors":"","doi":"10.1016/j.jns.2024.123170","DOIUrl":"10.1016/j.jns.2024.123170","url":null,"abstract":"<div><h3>Objective</h3><p>Electrocardiogram (ECG) is essential for evaluating the autonomic nervous system. Ensuring the quality of real-world ECG datasets is critical, but manual control of large datasets is impractical. Thus, automated quality control is necessary. This paper introduces a new quality index, the peak-distance quality index (PDQI), based on the modulation spectrum approach.</p></div><div><h3>Methods</h3><p>Real-life data from 1000 ECG recordings, each 600 s long, were collected at the stroke unit of the University Hospital Tulln. Each ECG was visually evaluated, including the duration of the signal, artefacts and noise, and the number of extrasystoles. The power-modulation spectrum, the percentage of ECG in each signal, and modulation spectrum-based quality index (MS-QI) and PDQI were calculated. The area under the curve (AUC) for the detection of high-quality ECGs was calculated for both quality indices, as well as the optimal threshold for each index.</p></div><div><h3>Results</h3><p>The percentage of ECG signals in the recordings based on the modulation spectrum correlates with expert rating (<em>r</em> = 0.99, <em>p</em> &lt; 0.001). The AUC for PDQI for the detection of extrasystoles is 0.96, and the AUC for MSQI for the detection of artefacts is 0.83. The optimal thresholds for PDQI and MSQI are 0.44 and 0.17, respectively</p></div><div><h3>Conclusion</h3><p>The power modulation spectrum can be applied to large amounts of data to detect ECG signals within biosignals and calculate quality indices. MSQI can be used for artefact detection and PDQI for extrasystole detection in ECG signals. A combined approach using both quality indices can provide a picture of the underlying data quality.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0022510X24003058/pdfft?md5=9e8824bb1bff5cf9e1d6806289e1ea3e&pid=1-s2.0-S0022510X24003058-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142021435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lack of impact of HIV status on carotid intima media thickness in a cohort of stroke patients in South Africa","authors":"","doi":"10.1016/j.jns.2024.123186","DOIUrl":"10.1016/j.jns.2024.123186","url":null,"abstract":"<div><h3>Introduction</h3><p>People living with HIV (PLWH) are at increased risk for cardiovascular disease. Carotid intima media thickness (cIMT) is a validated surrogate marker of atherosclerosis, and an accurate predictor of future cardiovascular events. It is uncertain whether HIV potentiates stroke risk through atherosclerosis in Sub-Saharan Africa and what effect HIV status has on cIMT. We sought to investigate the relationship between HIV status and cIMT in stroke patients in a region that is burdened with dual epidemics of HIV and stroke in the young.</p></div><div><h3>Methods</h3><p>Consecutive patients with new onset ischaemic stroke were recruited from a quaternary-level hospital in Johannesburg, South Africa, from August 2014 to November 2017. Patients were assessed for the presence of traditional cardiovascular risk factors and HIV infection, and investigated for stroke aetiology. cIMT was measured using high resolution B-mode ultrasound following standardized techniques.</p></div><div><h3>Results</h3><p>168 patients were included in the study, of which 62 (36.9%) were PLWH. Mean cIMT was higher in HIV-uninfected patients when compared to PLWH (0.79 ± 0.19 mm vs 0.69 ± 0.18 mm, <em>p</em> = 0.0021). However after adjusting for age, sex, hypertension, diabetes mellitus, smoking, total cholesterol, body mass index and stroke aetiology, there was no difference in mean cIMT between the groups (0.76 ± 0.16 mm vs 0.73 ± 0.17 mm, <em>p</em> = 0.29). Regression models revealed the determinants of cIMT to be age (<em>p</em> &lt; 0.0001), hypertension (<em>p</em> = 0.0098) and total cholesterol (<em>p</em> = 0.005), while the determinants of increased cIMT (≥0.70 mm) were only age (p &lt; 0.0001) and hypertension (<em>p</em> = 0.0002).</p></div><div><h3>Conclusion</h3><p>HIV status had no effect on cIMT in our cohort of stroke patients. The main determinants of cIMT were age and hypertension.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0022510X24003216/pdfft?md5=c00702fb687583c08bc72c27e02d8954&pid=1-s2.0-S0022510X24003216-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142011979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perampanel for the treatment of Asian people with epilepsy: Real-world evidence from the PERMIT extension study","authors":"","doi":"10.1016/j.jns.2024.123173","DOIUrl":"10.1016/j.jns.2024.123173","url":null,"abstract":"<div><p>This <em>post-hoc</em> analysis of the PERMIT Extension study compared the effectiveness and safety/tolerability of perampanel (PER) between Asian and non-Asian participants. Retention rates, adverse events (AEs), seizure frequency, responder rate (≥50% seizure frequency reduction), and seizure freedom rate (no seizures since at least the prior visit) were assessed. Retention was assessed after 3, 6 and 12 months. Effectiveness assessments were evaluated at 3, 6 and 12 months and the last visit by seizure type (total, focal and generalised). PERMIT Extension included 730 Asian and 1662 non-Asian individuals. Significant differences in demographic/baseline characteristics were reported for the Asian versus non-Asian subgroups including higher median age at epilepsy onset, longer median duration of epilepsy, higher mean number of previous and concomitant ASMs and lower mean monthly seizure frequency (total, focal and generalised). Retention rates were similar between the two subgroups at 3 and 12 months, but significantly lower in the Asian versus non-Asian subgroup at 6 months (65.6% vs. 71.8%; <em>p</em> = 0.004). At last visit, seizure freedom rate was significantly higher in the Asian versus non-Asian for total (35.9% vs. 25.4%; <em>p</em> = 0.001) and focal seizures (32.4% vs. 18.9%; <em>p</em> = 0.001) as was responder rate for both total (63.9% vs. 52.3%; <em>p</em> = 0.001) and focal seizures (62.2% vs. 44.7%; <em>p</em> &lt; 0.001). Seizure freedom and responder rates for generalised seizures were similar between the two subgroups at the last visit. Rates of AEs were similar between the two subgroups (Asian, 47.6%; non-Asian, 45.4%). PER was effective and generally well-tolerated in Asian and non-Asian individuals.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142233656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Morphometric analysis of spinal motor neuron degeneration in sporadic amyotrophic lateral sclerosis","authors":"","doi":"10.1016/j.jns.2024.123177","DOIUrl":"10.1016/j.jns.2024.123177","url":null,"abstract":"<div><h3>Objectives</h3><p>This study aimed to clarify the relationship between 43-kDa TAR DNA-binding protein (TDP-43) pathology and spinal cord anterior horn motor neuron (AHMN) atrophy in sporadic amyotrophic lateral sclerosis (SALS).</p></div><div><h3>Methods</h3><p>Eight patients with SALS and 12 controls were included in this study. Formalin-fixed specimens of lumbar spinal cord samples were paraffin-embedded and sectioned at the level of the fourth lumbar spinal cord with a 4 μm thickness. Using a microscope, the long diameters of the neurons with nucleoli were measured in spinal AHMNs stained with an anti-SMI-32 antibody. AHMNs were divided into medial and lateral nuclei for statistical analysis. We also used previously reported data to measure the long diameter of AHMNs with initial TDP-43 pathology, in which TDP-43 was present both in the nucleus and cytoplasm.</p></div><div><h3>Results</h3><p>The long diameter of the lumbar spinal AHMNs in patients with SALS was smaller in the medial nucleus (42.54 ± 9.33 μm, <em>n</em> = 24) and the lateral nucleus (49.41 ± 13.86 μm, <em>n</em> = 129) than in controls (medial nucleus: 55.84 ± 13.49 μm, <em>n</em> = 85, <em>p</em> &lt; 0.001; lateral nucleus: 62.39 ± 13.29 μm, <em>n</em> = 756, p &lt; 0.001, Mann–Whitney <em>U</em> test). All 21 motor neurons with initial TDP-43 pathology were in the lateral nucleus, and their long diameter (67.60 ± 18.3 μm, <em>p</em> = 0.352) was not significantly different from that of controls.</p></div><div><h3>Conclusion</h3><p>Motor neuron atrophy in SALS does not occur during the initial stages of TDP-43 pathology, and TDP-43 pathology is already advanced in the atrophied motor neurons.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141988271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic factors associated with disability in a cohort of neuromyelitis optica spectrum disorder and MOG-associated disease from a nationwide Portuguese registry","authors":"","doi":"10.1016/j.jns.2024.123176","DOIUrl":"10.1016/j.jns.2024.123176","url":null,"abstract":"<div><h3>Introduction</h3><p>Neuromyelitis optica spectrum disorders (NMOSD) and MOG-associated disease (MOGAD) are an increasingly recognized group of demyelinating disorders of the central nervous system. Previous studies suggest that prognosis is predicted by older age at onset, number of relapses, the severity of the first attack and autoantibody status.</p></div><div><h3>Objective</h3><p>To study prognostic factors associated with disability progression and additional relapses in the 3-year follow-up of a national NMOSD/MOGAD cohort.</p></div><div><h3>Results</h3><p>Out of 180 of the initial Portuguese cohort, data on 82 patients was available at the end of the follow-up period (2019–2022). Two patients died. Twenty (24.4%) patients had one or more attack in this period (25 attacks in total), mostly transverse myelitis (TM) (56.0%) or optic neuritis (32.0%). MOGAD was significantly associated with a monophasic disease course (<em>p</em> = 0.03), with milder attacks (<em>p</em> = 0.01), while AQP4 + NMOSD was associated with relapses (p = 0.03). The most common treatment modalities were azathioprine (38.8%) and rituximab (18.8%). AQP4 + NMOSD more frequently required chronic immunosuppressive treatment, particularly rituximab (p = 0.01). Eighteen (22.5%) had an EDSS ≥6 at the end of the follow-up. AQP4 + NMOSD (<em>p</em> &lt; 0.01) and the occurrence of transverse myelitis (TM) during disease (<em>p</em> = 0.04) correlated with an EDSS≥6 at the end of the follow-up period. MOGAD was significantly associated with an EDSS&lt;6 (p &lt; 0.01), and MOG+ cases that reached an EDSS&gt;6 were significantly older (64.0 ± 2.8 versus 31.0 ± 17.1, <em>p</em> = 0.017). A bivariate logistic regression model including the serostatus and TM attacks during disease history successfully predicted 72.2% of patients that progressed to an EDSS≥6.</p></div><div><h3>Conclusion</h3><p>This study highlights that myelitis predict increased disability (EDSS≥6) in NMOSD/MOGAG and AQP4 positivity is associated with increased disability.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141988272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical manifestations and outcomes associated with a high 2HELPS2B score in patients with acute impaired consciousness","authors":"","doi":"10.1016/j.jns.2024.123174","DOIUrl":"10.1016/j.jns.2024.123174","url":null,"abstract":"<div><h3>Purpose</h3><p>The 2HELPS2B score is an invaluable tool for assessing seizure risk in critically ill patients with unconsciousness. However, this can be challenging for non-epileptologists to use owing to its reliance on electroencephalogram (EEG) analysis. Thus, identifying clinical manifestations associated with high 2HELPS2B scores is crucial.</p></div><div><h3>Methods</h3><p>We examined patients who underwent EEG for acute impaired consciousness in the emergency department between 2020 and 2022. We evaluated the clinical manifestations immediately prior to the EEG tests and identified those associated with a 2HELPS2B score ≥ 2. Additionally, we investigated clinical outcomes in accordance with these manifestations and the 2HELPS2B score.</p></div><div><h3>Results</h3><p>A total of 78 patients were included in this study. While the median 2HELPS2B score was 1 (range: 0–6), 13 patients (16.6%) showed electrographic/electroclinical seizures or status epilepticus and 16 patients (20.5%) showed ictal-interictal continuum in their EEGs. Abnormal muscle tonus (<em>p</em> = 0.034) and eye deviation (<em>p</em> = 0.021) were Significantly associated with a 2HELPS2B score ≥ 2. The presence of these manifestations (<em>p</em> &lt; 0.001) and a 2HELPS2B score ≥ 2 (p &lt; 0.001) were both significantly associated with a favorable response to anti-seizure medication. Conversely, patients with a 2HELPS2B score ≥ 2 who exhibited these clinical manifestations were more likely to be non-dischargeable (<em>p</em> = 0.053), have prolonged intensive care unit stays (<em>p</em> = 0.002), or require extended ventilator use (<em>p</em> = 0.082).</p></div><div><h3>Conclusion</h3><p>Abnormal muscle tonus and eye deviation were significant manifestations compatible with a 2HELPS2B score ≥ 2 and may indicate an increased risk of seizures or the severity of the epileptic condition.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142145896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain plasticity and neuroinflammatory protein biomarkers with circulating MicroRNAs as predictors of acute brain injury outcome – A prospective cohort study","authors":"","doi":"10.1016/j.jns.2024.123169","DOIUrl":"10.1016/j.jns.2024.123169","url":null,"abstract":"<div><h3>Background</h3><p>Brain recovery mechanisms after injuries like aneurysmal subarachnoid hemorrhage (aSAH), ischemic stroke (IS), and traumatic brain injury (TBI) involve brain plasticity, synaptic regeneration, and neuroinflammation. We hypothesized that serum levels of the p75 neurotrophic receptor (p75NTR) and associated signaling proteins, as well as differentially expressed (DE) microRNAs, could predict recovery outcomes irrespective of injury type.</p></div><div><h3>Methods</h3><p>A prospective patient cohort with ischemic stroke (IS, <em>n</em> = 30), aneurysmal subarachnoid hemorrhage (aSAH, <em>n</em> = 31), and traumatic brain injury (TBI, <em>n</em> = 13) were evaluated (total <em>n</em> = 74). Serum samples were collected at two post-injury intervals (early: 1–3 days, late: 4–8 days), and outcomes were assessed after three months using the modified Rankin Scale (mRS), categorizing outcomes as favorable (mRS 0–3) or unfavorable (mRS 4–6). Six proteins were measured using ELISAs: p75NTR, NGF, sortilin, IL1β, TNFα, and cyclophilin. DE microRNAs were identified using DESeq2, and their target genes were predicted. Serum molecules between patients with differing outcomes were compared using a Kolmogorov-Smirnov test, 2-tailed <em>t</em>-test and multivariate linear discriminant analysis (LDA).</p></div><div><h3>Results</h3><p>Favorable (<em>n</em> = 46) and unfavorable (<em>n</em> = 28) outcome cohorts were balanced with age and sex (<em>p</em> = 0.25 and 0.63). None of the studied proteins correlated with age. Combinatory LDA of the six protein biomarkers indicated strong prognostic value for favorable outcomes (OR 2.09; AUC = 70.3%, <em>p</em> = 0.0058). MicroRNA expression changes over time were identified in the aSAH, TBI, and IS groups (<em>p</em> &lt; 0.05, FDR corrected). Twenty-three microRNAs were commonly DE across all brain injury groups when comparing favorable and unfavorable outcomes (p &lt; 0.05). LDA of four microRNAs targeting the studied proteins showed high prognostic accuracy (OR 11.7; AUC = 94.1%, <em>p</em> = 0.016).</p></div><div><h3>Conclusions</h3><p>The combined prognostic microRNA and protein biomarker models demonstrated accurate outcome prognostication across diverse injury types, implying the presence of a common recovery mechanism. DE microRNAs were found to target the studied molecules, suggesting a potential mechanistic role in recovery. Further investigation is warranted to study these molecules in prognostication, as well as therapeutic targets for enhancing recovery.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0022510X24003046/pdfft?md5=82beeb5d38ee741fe99b38cda9b93b8a&pid=1-s2.0-S0022510X24003046-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141913099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of sex, age at onset, and anti-cN1A antibodies on sporadic inclusion body myositis","authors":"","doi":"10.1016/j.jns.2024.123164","DOIUrl":"10.1016/j.jns.2024.123164","url":null,"abstract":"<div><h3>Background</h3><p>Inclusion body myositis (IBM) is a progressive myopathy occurring in patients over 45 years of age, with heterogeneous and variable clinical features. This study aimed to determine the influence of autoantibodies, gender, and age of onset on the clinical features of IBM.</p></div><div><h3>Methods</h3><p>Medical records and muscle histology findings of 570 participants with suspected IBM were reviewed. Various characteristics of patients who met the 2011 ENMC IBM diagnostic criteria were compared based on the presence of anti-cytosolic 5′-nucleotidase 1 A (cN1A) autoantibodies, gender, age of onset, and disease duration.</p></div><div><h3>Results</h3><p>Of the 353 patients who met the criteria, 41.6% were female. The mean age at onset was 64.6 ± 9.3 years, and the mean duration from onset to diagnosis was 5.7 ± 4.7 years. 196 of the 353 patients (55.5%) were positive for anti-cN1A autoantibodies and 157 were negative. Logistic regression showed that patients with anti-cN1A autoantibodies had a higher frequency of finger flexion weakness. Multiple regression showed that patients with later age of onset had shorter disease duration, lower BMI, and lower serum CK levels. Male patients had a higher frequency of onset with finger weakness and female patients had a lower BMI.</p></div><div><h3>Conclusion</h3><p>Autoantibodies, gender, age of onset, and disease duration may influence the clinical presentation of IBM, highlighting the need for a precision medicine approach that considers these factors along with the underlying mechanisms of the disease.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141913101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease","authors":"","doi":"10.1016/j.jns.2024.123168","DOIUrl":"10.1016/j.jns.2024.123168","url":null,"abstract":"<div><p>Adult polyglucosan body disease (APBD) is a rare autosomal recessive glycogen storage disorder that leads to slowly progressive multi-organ dysfunction in adulthood. A novel disease-specific patient-reported outcome measure was created and administered to assess symptom burden and health-related quality of life (HR-QOL) in APBD. Thirty-six participants between 30 and 79 years of age (83% ≥60 years, 56% male) completed the anonymous questionnaire independently or with a caregiver proxy (75% self-report). Unemployment predicted an 18.3 (95% CI: 2.8, 33.8; <em>p</em> = 0.028) higher composite disease severity score and a 28.8 (95% CI: 8.2, 49.4; <em>p</em> = 0.010) higher composite HR-QOL score. Use of one or more assistive devices also predicted a 29.3 (95% CI: 8.3, 50.4; <em>p</em> = 0.011) higher composite disease severity score and a 41.8 (95% CI: 10.9, 72.8; <em>p</em> = 0.013) higher composite HR-QOL score. Proxy survey completion predicted a 19.4 (95% CI: 4.1, 34.7; <em>p</em> = 0.020) higher composite disease severity score compared to self-report. Older age at survey completion predicted a 27.4 higher composite HR-QOL score (95% CI: 2.5, 52.4; <em>p</em> = 0.039) for participants in their sixties compared to those between 30 and 59 years old. The development of the Adult Polyglucosan Body Disease questionnaire on Symptom burden and health-related Quality of life (APBD-SQ) marks an important stride forward in capturing the patient experience as a tool for disease monitoring and future research.</p></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141913100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}