Acta Neurologica Scandinavica[JOURNAL]
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200 papers
Reply: Neurological disease in pregnant females with COVID-19 may not only be attributable to SARS-CoV-2.
Magalhães JE, Sampaio-Rocha-Filho PA
Acta Neurol Scand · 2022 Aug · PMID 35712940 · Full text
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Onset of efficacy and adverse events during Cenobamate titration period.
Steinhoff BJ, Ben-Menachem E, Brandt C … +4 more , García Morales I, Rosenfeld WE, Santamarina E, Serratosa JM
Acta Neurol Scand · 2022 Sep · PMID 35711112 · Full text
OBJECTIVES: Cenobamate is an antiseizure medication (ASM) approved in Europe as adjunctive therapy for adults with inadequately controlled focal seizures. This post hoc analysis reports onset of efficacy and characterize...
OBJECTIVES: Cenobamate is an antiseizure medication (ASM) approved in Europe as adjunctive therapy for adults with inadequately controlled focal seizures. This post hoc analysis reports onset of efficacy and characterizes time to onset, duration, and severity of the most common treatment-emergent adverse events (TEAEs) during cenobamate titration. MATERIALS & METHODS: Adult patients with uncontrolled focal seizures taking 1 to 3 concomitant ASMs were randomized to receive adjunctive cenobamate or placebo (double-blind studies C013 and C017) or cenobamate (open-label study C021). Outcome assessments included efficacy (median percentage change in seizure frequency and onset [studies C013 and C017]) and safety (onset, duration, and severity of TEAEs [all studies]). RESULTS: Onset of efficacy was observed by Weeks 1 to 4 of titration in studies C013 and C017 which used a faster titration schedule than study CO21. In study C013, the median percentage seizure frequency reduction was 36.7% in patients receiving cenobamate versus 16.3% in those taking placebo (p = .002); in study C017, significant differences in seizure frequency emerged in Week 1 and continued throughout titration between all cenobamate groups and placebo (p < .001). The most commonly reported TEAEs were somnolence, dizziness, fatigue, and headache, with first onset of each reported as early as Week 1; however, the majority resolved. CONCLUSIONS: Reductions in seizure frequency occurred during titration with initial efficacy observed prior to reaching the target dose. These reductions were regarded as clinically meaningful because they may indicate early efficacy at lower doses than previously expected and had a considerable impact on patient quality of life. Long-term treatment with adjunctive cenobamate was generally safe and well-tolerated.
Potential mechanism of SARS-CoV-2-associated central and peripheral nervous system impairment.
Zhang Y, Chen X, Jia L … +1 more , Zhang Y
Acta Neurol Scand · 2022 Sep · PMID 35699161 · Full text
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is more than merely a respiratory disease, as it also presents with various neurological symptoms. SARS-CoV-2 may infect the central nervous system (CNS) and t...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is more than merely a respiratory disease, as it also presents with various neurological symptoms. SARS-CoV-2 may infect the central nervous system (CNS) and thus is neurotropic. However, the pathophysiological mechanism of coronavirus disease 2019 (COVID-19)-associated neuropathy remains unclear. Many studies have reported that SARS-CoV-2 enters the CNS through the hematogenous and neuronal routes, as well as through the main host neurological immune responses and cells involved in these responses. The neurological immune responses to COVID-19 and potential mechanisms of the extensive neuroinflammation induced by SARS-CoV-2 have been investigated. Although CNS infection with SARS-CoV-2 was shown to lead to neuronal impairment, certain aspects of this mechanism remain controversial and require further analysis. In this review, we discussed the pathway and mechanisms of SARS-CoV-2 invasion in the CNS, and associated clinical manifestations, such as anosmia, headache, and hyposmia. Moreover, the mechanism of neurological damage caused by SARS-CoV-2 may provide potential treatment methods for patients presenting with SARS-CoV-2-associated neuropathy.
Nucleotide oligomerization domain polymorphism confers no risk to Guillain-Barré syndrome.
Hayat S, Asad A, Hasan I … +4 more , Jahan I, Papri N, Howlader ZH, Islam Z
Acta Neurol Scand · 2022 Aug · PMID 35652365 · Publisher ↗
OBJECTIVES: Nucleotide oligomerization domain (NOD) proteins are cytoplasmic receptors that play important roles in host innate immune responses to pathogens by recognizing self or non-self-molecules and have been implic...
OBJECTIVES: Nucleotide oligomerization domain (NOD) proteins are cytoplasmic receptors that play important roles in host innate immune responses to pathogens by recognizing self or non-self-molecules and have been implicated in many autoimmune diseases including Guillain-Barré syndrome (GBS). The current study investigated whether NOD polymorphisms (NOD1-Glu266Lys, rs2075820, and NOD2- [Arg702Trp, rs2066844 and Gly908Arg, rs2066845]) contribute to ligand sensing and thus affect the susceptibility and/or severity of GBS. MATERIALS AND METHODS: We determined single nucleotide polymorphisms (SNPs) of NOD gene (NOD1-Glu266Lys and NOD2-[Arg702Trp; Gly908Ar]) in 303 patients with GBS and 303 healthy controls from Bangladesh by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and Sanger sequencing. Genotypes and allele frequencies were compared by performing chi-squared or Fisher's exact test with Yates' continuity correction. Serology for Campylobacter jejuni and anti-GM1 antibodies were determined by enzyme-linked immunosorbent assay (ELISA) techniques. RESULTS: NOD variants (NOD1-Glu266Lys and NOD2- [Arg702Trp; Gly908Arg]) were not associated with susceptibility and severity of GBS when compared with healthy controls and mild or severe form of disease. Moreover, NOD2 polymorphisms showed wild-type NOD2 C2104 and NOD2 G2722, respectively, with homozygous Arg/Arg genotype of NOD2 (Arg702Trp) polymorphism and homozygous Gly/Gly genotype of NOD2 (Gly908Arg) for all study subjects in Bangladesh. Homogenous distribution of NOD1 genotypes was observed in patients with axonal and demyelinating form of GBS. CONCLUSIONS: NOD variants confer no risk to the susceptibility and severity of GBS. Moreover, NOD2 polymorphism is rare or absent in patients with GBS as well as in the healthy individuals of Bangladesh.
High on-treatment platelet reactivity is associated with poor outcomes after ischemic stroke: A meta-analysis.
Zhou K, Yu S, Li J … +6 more , Tan Y, Xing S, Chen Y, Ouyang F, Zeng J, Zhang J
Acta Neurol Scand · 2022 Sep · PMID 35652290 · Publisher ↗
OBJECTIVES: High on-treatment platelet reactivity (HTPR) determined by platelet function assays is present in certain patients with ischemic stroke or transient ischemic attack (TIA). However, it is unclear whether HTPR...
OBJECTIVES: High on-treatment platelet reactivity (HTPR) determined by platelet function assays is present in certain patients with ischemic stroke or transient ischemic attack (TIA). However, it is unclear whether HTPR is associated with poor clinical outcomes. Our study aimed to investigate the relationship of HTPR with recurrent vascular events in ischemic stroke or TIA. METHODS: Pubmed (MEDLINE), EMBASE, and Cochrane Library were searched for eligible studies from inception to January 1, 2022. Stata 17.0 software was used to calculate the risk ratio (RR). Subgroup and sensitivity analyses were conducted to assess the source of heterogeneity. A random-effects model was used when heterogeneity was present. Primary endpoint of the meta-analysis was the risk ratio of recurrent vascular events in HTPR Patients. While stroke and TIA, all-cause death, early neurological deterioration, early new ischemic lesions, and stroke severity measured by National Institute of Health Stroke Scale (NIHSS) scores at admission were also pooled. RESULTS: Thirty articles (7995 patients) were eligible including 28 cohort studies and 2 prospective case-control studies. The prevalence of HTPR varied from 5.9% to 60%. HTPR was associated with an increased risk of recurrent vascular events (RR = 2.94, 95% CI 2.04-4.23), stroke recurrence (RR = 2.05; 95% CI 1.43-2.95), and all-cause mortality (RR = 2.43; 95% CI 1.83-3.22). Subgroup analysis showed that HTPR determined by optical aggregometry, Verify-Now system and 11dh TXB2 is related to a higher risk of recurrent vascular events (RR = 3.53, 95% CI 1.51-9.40; RR = 2.16, 95% CI 1.02-4.56; RR = 3.76, 95% CI 1.51-9.40, respectively). Moreover, patients with HTPR had an increased incidence of early neurological deterioration (RR = 2.75; 95% CI 1.76-4.30) and higher NIHSS scores at admission (Mean difference 0.19, 95% CI 0.01-0.36). CONCLUSIONS: This meta-analysis demonstrates HTPR is associated with higher risk of recurrent vascular events, early neurological deterioration and increased severity in patients with ischemic stroke and TIA. HTPR measured by platelet function assays may guide the use of antiplatelet agents in ischemic stroke and TIA.
Methodological survey of missing outcome data in an alteplase for ischemic stroke meta-analysis.
Garg R
Acta Neurol Scand · 2022 Sep · PMID 35652287 · Full text
OBJECTIVE: Recent national guidelines recommend alteplase treatment for ischemic stroke within 4.5 h of symptom-onset based on meta-analyses of randomized controlled clinical trials (RCT). A detailed description of missi...
OBJECTIVE: Recent national guidelines recommend alteplase treatment for ischemic stroke within 4.5 h of symptom-onset based on meta-analyses of randomized controlled clinical trials (RCT). A detailed description of missing outcome data (MOD) due to participant loss to follow-up has never been published. The objective of this study was to perform a methodlogical survey on missing outcome data in an alteplase for ischemic stroke meta-analysis. MATERIALS AND METHODS: A methodological survey was performed on a chosen meta-analysis of alteplase for ischemic stroke RCTs that most closely aligns with recent national guideline recommendations. Data were collected to assess the number of participants lost to follow-up; differential lost to follow-up between allocation groups; baseline characteristics of those lost to follow-up; and the imputation methods used by individual trials and the chosen meta-analysis. The number of participants lost to follow-up was compared with the fragility index; and repeated for individually positive RCTs in the meta-analysis. RESULTS: The methodological survey revealed a substantial degree of missing information regarding MOD in the chosen meta-analysis and in individual RCTs. Single imputation was exclusively used in all RCTs and in the meta-analysis. The number of participants lost to follow-up was greater than the fragility index in the chosen meta-analysis and individually positive component RCTs suggesting that MOD may impact the direction of the reported effect or effect size. CONCLUSION: This methodological survey of an alteplase for ischemic stroke meta-analysis revealed MOD may be an important source of unrecognized bias. This survey highlights the need for sensitivity analyses using more robust methods of imputation.
Impaired procedural memory in narcolepsy type 1.
Asp A, Lund F, Benedict C … +1 more , Wasling P
Acta Neurol Scand · 2022 Aug · PMID 35652281 · Full text
OBJECTIVES: Sleep enhances the consolidation of memories. Here, we investigated whether sleep-dependent memory consolidation differs between healthy subjects and narcolepsy type 1 (NT1) patients. MATERIAL AND METHODS: We...
OBJECTIVES: Sleep enhances the consolidation of memories. Here, we investigated whether sleep-dependent memory consolidation differs between healthy subjects and narcolepsy type 1 (NT1) patients. MATERIAL AND METHODS: We recruited 18 patients with NT1 and 24 healthy controls. The consolidation of spatial (declarative memory; 2-dimensional object location) and procedural (non-declarative memory; finger sequence tapping) memories was examined across one night of at-home sleep. Sleep was measured by an ambulatory sleep recording device. RESULTS: The overnight gain in the number of correctly recalled sequences in the finger-tapping test was smaller for NT1 patients than healthy subjects (+8.1% vs. +23.8% from pre-sleep learning to post-sleep recall, p = .035). No significant group differences were found for the overnight consolidation of spatial memory. Compared to healthy subjects, the sleep of NT1 patients was significantly more fragmented and shallow. However, no significant correlations were found between sleep parameters and overnight performance changes on the memory tests in the whole group. CONCLUSION: The sleep-dependent consolidation of procedural but not spatial memories may be impaired among patients with NT1. Therefore, future studies are warranted to examine whether sleep improvement, for example, using sodium oxybate, can aid the sleep-dependent formation of procedural memories among NT1 patients.
ANT-DBS in epilepsy shows no effect on selected neuropsychiatric tests.
Herrman H, Osnes K, Egge A … +4 more , Konglund A, Ramm-Pettersen J, Dietrichs E, Taubøll E
Acta Neurol Scand · 2022 Sep · PMID 35649713 · Full text
OBJECTIVES: Deep brain stimulation of the anterior thalamic nucleus (ANT-DBS) is an established option in treatment-resistant epilepsy and obtained FDA approval in 2018. Increased psychiatric comorbidity is well known in...
OBJECTIVES: Deep brain stimulation of the anterior thalamic nucleus (ANT-DBS) is an established option in treatment-resistant epilepsy and obtained FDA approval in 2018. Increased psychiatric comorbidity is well known in epilepsy. The main objective of this study was to investigate possible neuropsychiatric treatment-related changes in patients receiving ANT-DBS. MATERIALS AND METHODS: Bilateral ANT electrodes were implanted in 18 adult patients with refractory epilepsy in a randomized, double-blinded study. Immediately after implantation, patients were randomized to stimulation ON (n = 8) or OFF (n = 10) for the first 6 months (blinded phase). During the next six months (open phase), both groups received active stimulation. Neuropsychiatric assessment was conducted before implantation (T1), at the end of the blinded period (T2), and 1 year after implantation (T3). RESULTS: Comparing preoperative status (T1) and 12 months (T3), postoperative outcome in all patients did not show significant differences between the two groups for any of the applied tests. Groupwise comparisons across the two first time points (the blinded period, representing the randomized controlled trial) showed no significant differences between the two groups in any of the neuropsychiatric parameters studied. Comparing test results after 6 months of stimulation in both groups (sum of ON group T1 to T2 and OFF group T2 to T3) did not show significant changes for any of the psychiatric assessments. CONCLUSIONS: Our results indicate that ANT-DBS has limited effect concerning psychiatric issues. Subjective side effects were, however, reported in individual patients.
Dopamine transporter imaging in progressive supranuclear palsy: Severe but nonspecific to subtypes.
Chen QS, Li XY, Li L … +5 more , Lu JY, Sun YM, Liu FT, Zuo CT, Wang J
Acta Neurol Scand · 2022 Sep · PMID 35611608 · Publisher ↗
BACKGROUND: Previous studies with a limited sample size suggested more severe dopaminergic transporter (DAT) lesions in the striatum of progressive supranuclear palsy (PSP) than those in Parkinson's disease (PD) and mult...
BACKGROUND: Previous studies with a limited sample size suggested more severe dopaminergic transporter (DAT) lesions in the striatum of progressive supranuclear palsy (PSP) than those in Parkinson's disease (PD) and multiple system atrophy-parkinsonism (MSA-P). However, few studies had taken various subtypes of PSP into consideration, making the reanalysis of DAT imaging in larger PSP cohort with various subtypes in need. OBJECTIVES: To compare the dopaminergic lesion patterns of PSP with MSA-P and PD, and to explore the specific striatal subregional patterns of different PSP subtypes. METHODS: C-CFT positron emission tomography (PET) imaging was conducted in 83 PSP patients consisting of different subtypes, 61 patients with PD, 41 patients with MSA-P, and 43 healthy volunteers. Demographic and clinical data were compared by the chi-squared test or one-way analysis of variance. A generalized linear model was used to examine intergroup differences in tracer uptake values after adjusting for age, disease duration, and disease severity. Areas under the receiver operating characteristic curve were calculated to assess the diagnostic accuracy of subregional DAT binding patterns. RESULTS: The patients with PSP presented more severe DAT loss in the striatum than in PD and MSA-P, especially in caudate. In PSP, the subregional lesion was still more severe in putamen than in caudate, similar to that in PD and MSA-P. Among detailed subtypes, no significant difference was detected. CONCLUSION: The dopaminergic lesions were more severe in PSP, and no difference was detected among subtypes.
Blood biomarkers of peripheral neuropathy.
Rossor AM, Reilly MM
Acta Neurol Scand · 2022 Oct · PMID 35611606 · Full text
Traditionally, neurophysiology is the primary diagnostic and prognostic biomarker in peripheral neuropathy clinical practice; however, it may lack responsiveness in the context of slowly progressive neuropathies and wher...
Traditionally, neurophysiology is the primary diagnostic and prognostic biomarker in peripheral neuropathy clinical practice; however, it may lack responsiveness in the context of slowly progressive neuropathies and where there is significant axonal damage. The development of ultrasensitive platforms for measuring serum proteins at the lower limit of detection of traditional ELISA techniques has transformed the field of blood biomarkers of peripheral neuropathy. A variety of blood biomarkers have been identified from inflammatory cytokines and apokines in diabetic neuropathy through to neuron-specific proteins such as neurofilament light chain, Schwann cell-specific proteins such as TMPRSS5 and microRNAs in other acquired and hereditary neuropathies. In this article, we review blood biomarkers of disease activity for the common subtypes of peripheral neuropathy including inflammatory demyelinating neuropathies, vasculitic neuropathy, diabetic neuropathy, chemotherapy-induced neuropathy and Charcot-Marie-Tooth disease and related disorders including TTR amyloidosis.
Effects of subthalamic deep brain stimulation on non-motor symptoms of Parkinson's disease: A meta-analysis.
Eghlidos Z, Rahimian Z, Vadiee G … +1 more , Jahangiri S
Acta Neurol Scand · 2022 Aug · PMID 35611557 · Publisher ↗
Deep brain stimulation (DBS) is a well-defined treatment for motor symptoms in advanced PD. Although several studies have investigated the DBS effect on non-motor symptoms (NMS), controversial results exist regarding thi...
Deep brain stimulation (DBS) is a well-defined treatment for motor symptoms in advanced PD. Although several studies have investigated the DBS effect on non-motor symptoms (NMS), controversial results exist regarding this matter. The aim of this meta-analysis and systematic review was to assess the bilateral subthalamic nucleus (STN) DBS effect on NMS of PD. We conducted a systematic search on the literature of Web of Science (WOS), PubMed/MEDLINE, Scopus, Cochrane, and Embase. An additional hand search was also done. Finally, a meta-analysis was conducted on 10 studies containing pre- and post-bilateral STN-DBS data regarding NMS acquired using Non-Motor Symptoms Scale for Parkinson's Disease (NMSS) or Non-Motor Symptoms Questionnaire (NMSQ). A random-effects model was used to determine weighted mean differences, and the heterogeneity index was evaluated using Cochrane's Q test. Our study results indicated that bilateral STN-DBS significantly reduced total NMSS and NMSQ score (WMD -17.73; 95% confidence interval [CI] -20.28 to -15.18, WMD -2.19; 95% CI -2.98 to -1.40), respectively, and no publication bias was found. Regarding each of the NMSS domains, DBS significantly reduced the scores of following domains: sleep (WMD -5.98; 95% CI -6.82 to -5.15), miscellaneous (WMD -4.19; 95% CI -4.96 to -3.43), urinary (WMD -2.99; 95% CI -3.78 to -2.19), sexual (WMD -0.65; 95% CI -1.16 to -0.14), and attention/memory (WMD -0.59; 95% CI -1.15 to -0.03). This meta-analysis demonstrated that bilateral STN-DBS has beneficial effects on NMS of PD.
Intercountry comparisons of advanced Parkinson's disease symptoms and management: Analysis from the OBSERVE-PD observational study.
Fasano A, Fung VSC, Seppi K … +7 more , Pirtosek Z, Takáts A, Alobaidi A, Onuk K, Bergmann L, Parra JC, Elibol B
Acta Neurol Scand · 2022 Aug · PMID 35607843 · Full text
OBJECTIVES: In the absence of widely accepted criteria, determining when a patient with Parkinson's disease (PD) may benefit from more advanced treatments such as device-aided therapy (DAT) so far remains a matter of phy...
OBJECTIVES: In the absence of widely accepted criteria, determining when a patient with Parkinson's disease (PD) may benefit from more advanced treatments such as device-aided therapy (DAT) so far remains a matter of physician judgment. This analysis investigates how classification of PD varies across countries relative to measures of disease severity. MATERIALS AND METHODS: The OBSERVational, cross-sEctional PD (OBSERVE-PD) study included consecutive patients with PD at centers that offer DATs in 18 countries. In this subgroup analysis, we explore intercountry differences in identification of advanced versus non-advanced PD based on physician's clinical judgment, symptoms assessed using Delphi consensus criteria, use of DAT, motor and non-motor symptoms, and caregiver support. Demographic and clinical characteristics were obtained through review of medical records. RESULTS: Overall, 1342 of 2615 patients (51.3%) were assessed by physicians as having advanced PD. The proportion of patients in different countries identified as having advanced PD (24.4-82.2%) varied. In 15 of 18 countries, a greater proportion of patients with advanced PD, according to select Delphi criteria, were identified by physicians as having advanced PD than with non-advanced PD. There was a wide variability across countries in the proportion of patients with no dyskinesia, disabling dyskinesia, dyskinesia pain, and non-motor symptoms who were identified by physicians as having advanced versus non-advanced PD. CONCLUSIONS: The proportion of patients identified with advanced PD symptoms varies widely across countries, despite differences on the patients' profiles, indicating a need for objective diagnostic criteria to help identify patients who may benefit from DAT.
Prehospital triage optimization of patients with large vessel occlusion by Austrian Prehospital Stroke Scale.
Krebs S, Sykora M, Krammel M … +7 more , Girsa M, Auer A, Greisenegger S, Neumann C, Beisteiner R, Lang W, Roth D
Acta Neurol Scand · 2022 Sep · PMID 35596547 · Publisher ↗
OBJECTIVES: The Austrian Prehospital Stroke Scale (APSS) score was developed to predict large vessel occlusion (LVO) and improve prehospital transportation triage. Its accuracy has been previously analyzed retrospectivel...
OBJECTIVES: The Austrian Prehospital Stroke Scale (APSS) score was developed to predict large vessel occlusion (LVO) and improve prehospital transportation triage. Its accuracy has been previously analyzed retrospectively. We now aimed to investigate the accuracy, as well as the impact of the implementation of a triage strategy using this score on treatment times and outcome in a prospective study. MATHERIAL & METHODS: Prospective diagnostic test accuracy and before-after interventional study. EMS prospectively evaluated APSS in patients suspected of stroke. Accuracy was compared with other LVO scores. Patients with APSS ≥4 points were brought directly to the comprehensive stroke center. Treatment time frames, neurological, and radiological outcome before and after the APSS implementation were compared. RESULTS: A total of 307 patients with suspected stroke were included from October 2018 to February 2020. Treatable LVO was present in 79 (26%). Sensitivity of APSS to detect those was 90%, specificity 79%, positive predictive value 66%, negative predictive value 95%, and area under the curve 0.87 (95% CI 0.83-0.91). This was similar to in-hospital NIHSS (AUC 0.89 95% CI 0.89-0.92, p = .06) and superior to CPSS (AUC 0.83 95% CI 0.78-0.87, p = .01). Implementation of APSS triage increased direct transportation rate for LVO patients (21% before vs. 52% after; p < .001) with a significant time benefit (alert to groin puncture time benefit: 51 min (95% CI 28-74; p < .001). Neurological and radiological outcome did not differ significantly. CONCLUSIONS: Austrian Prehospital Stroke Scale triage showed an accuracy comparable with in-hospital NIHSS, and lead to a significant optimization of prehospital workflows in patients with potential LVO.
Neurological disease in pregnant females with COVID-19 may not only be attributable to SARS-CoV-2.
Finsterer J
Acta Neurol Scand · 2022 Aug · PMID 35561124 · Full text
Abstract loading — click title to view on PubMed.
Congenital myopathies in adults: A diagnosis not to overlook.
Pinto MJ, Passos BA, Grangeia A … +2 more , Guimarães J, Braz L
Acta Neurol Scand · 2022 Aug · PMID 35548885 · Publisher ↗
BACKGROUND: Congenital myopathies (CM) were traditionally classified according to the muscle histopathological features, but in recent years, molecular diagnosis has become increasingly important. CM may present a wide p...
BACKGROUND: Congenital myopathies (CM) were traditionally classified according to the muscle histopathological features, but in recent years, molecular diagnosis has become increasingly important. CM may present a wide phenotype variability, and while adult-onset CM have been increasingly recognized, substantial diagnostic delays are still reported. OBJECTIVES: To describe a cohort of adult CM patients, including clinical, genetic, and histopathological features, and further characterize the subgroup of adult-diagnosed patients. MATERIALS AND METHODS: We performed a retrospective observational cohort study to characterize the CM patients evaluated in our adult Neuromuscular outpatient clinic, including the subgroup of adult-diagnosed patients. RESULTS: We identified 19 CM patients with compatible molecular and/or histological diagnoses, of which 14 were diagnosed in adulthood. Eleven adult-diagnosed patients had symptoms since childhood and 9 had a family history of myopathy. The median age of symptoms' onset was 4 years old and the median age at diagnosis was 37 years old. The most common causative gene was RYR1, followed by TTN and MYH7. Three patients had non-specific features on muscle biopsy, all diagnosed during adulthood. CONCLUSIONS: In our cohort, the majority of CM were diagnosed in adulthood, despite most having pediatric-onset symptoms and positive family history. The diagnostic delay may be associated with mild presentation, slow course, atypical muscle histology, and lack of awareness of adult-onset CM. Studies with larger populations are needed.
Narcolepsy among first- and second-generation immigrants in Sweden: A study of the total population.
Wändell P, Fredrikson S, Carlsson AC … +3 more , Li X, Sundquist J, Sundquist K
Acta Neurol Scand · 2022 Aug · PMID 35543223 · Full text
AIMS: To study incident narcolepsy in first- and second-generation immigrant groups using Swedish-born individuals and native Swedes as referents. METHODS: The study population included all individuals registered and ali...
AIMS: To study incident narcolepsy in first- and second-generation immigrant groups using Swedish-born individuals and native Swedes as referents. METHODS: The study population included all individuals registered and alive in Sweden at baseline. Narcolepsy was defined as having at least one registered diagnosis of narcolepsy in the Swedish National Patient Register. The incidence of narcolepsy in different immigrant groups was assessed by Cox regression, with hazard ratios (HRs) and 95% confidence intervals (CI). The models were stratified by sex and adjusted for age, geographical residence in Sweden, educational level, marital status, co-morbidities, and neighbourhood socioeconomic status. RESULTS: In the first-generation study, 1225 narcolepsy cases were found; 465 males and 760 females, and in the second-generation study, 1710 cases, 702 males and 1008 females. Fully adjusted HRs (95% CI) in the first-generation study was for males 0.83 (0.61-1.13) and females 0.83 (0.64-1.07), and in the second-generation study for males 0.76 (0.60-0.95) and females 0.91 (95% CI 0.76-1.09). Statistically significant excess risks of narcolepsy were found in first-generation males from North America, and second-generation males with parents from North America, and second-generation females with parents from Latin America. CONCLUSIONS: There were only significant differences in incident narcolepsy between native Swedes and second-generation male immigrants. The observed differences can partly be explained by differences in Pandemrix® vaccinations and are probably not attributable to genetic differences between immigrants and natives.
Cortical remodeling before and after successful temporal lobe epilepsy surgery.
Li W, Jiang Y, Qin Y … +7 more , Li X, Lei D, Zhang H, Luo C, Gong Q, Zhou D, An D
Acta Neurol Scand · 2022 Aug · PMID 35506500 · Publisher ↗
OBJECTIVES: To explore dynamic alterations of cortical thickness before and after successful anterior temporal lobectomy (ATL) in patients with unilateral mesial temporal lobe epilepsy (mTLE). MATERIALS AND METHODS: High...
OBJECTIVES: To explore dynamic alterations of cortical thickness before and after successful anterior temporal lobectomy (ATL) in patients with unilateral mesial temporal lobe epilepsy (mTLE). MATERIALS AND METHODS: High-resolution T1-weighted MRI was obtained in 28 mTLE patients who achieved seizure freedom for at least 24 months after ATL and 29 healthy controls. Patients were scanned at five timepoints, including before surgery, 3, 6, 12 and 24 months after surgery. Preoperative cortical thickness of mTLE patients were compared with healthy controls. Dynamic alterations of cortical thickness before and after surgery were compared among five scans using linear mixed models. RESULTS: Patients with mTLE showed cortical thinning pre-surgically in ipsilateral entorhinal cortex, parahippocampal gyrus, inferior parietal cortex, lateral occipital cortex; contralateral pericalcarine cortex (PCC); and bilateral caudal middle frontal gyrus (cMFG), paracentral lobule, precentral gyrus (PCG), superior parietal cortex. Cortical thickening was observed in contralateral rostral anterior cingulate cortex (rACC). Patients showed postsurgical cortical thinning in ipsilateral temporal lobe, fusiform gyrus, caudal anterior cingulate cortex, lingual gyrus, and insula. Ipsilateral cMFG, PCC, and contralateral PCG showed significant cortical thickening after surgery. In addition, contralateral rACC showed cortical thickening at 3 months follow-up, however, with obvious cortical thinning at 24 months follow-up. CONCLUSIONS: Mesial temporal lobe epilepsy patients showed widespread cortical thinning before and after anterior temporal lobectomy. Progressive cortical thinning mainly existed in neighboring regions of resection. Postoperative cortical thickening may indicate cortical remodeling after successful surgery.
Airplane flights triggering spontaneous intracranial hypotension: Observations from the Danish headache centre.
Vukovic-Cvetkovic V, Schytz HW
Acta Neurol Scand · 2022 Jul · PMID 35502151 · Full text
OBJECTIVE: Spontaneous intracranial hypotension (SIH) manifests as orthostatic headache, which can be confirmed by radiological signs of low intracranial pressure on magnetic resonance imaging of the brain. The most comm...
OBJECTIVE: Spontaneous intracranial hypotension (SIH) manifests as orthostatic headache, which can be confirmed by radiological signs of low intracranial pressure on magnetic resonance imaging of the brain. The most common mechanisms of SIH are ruptured meningeal diverticula, ventral dural tears and CSF-venous fistulas. SIH is associated with connective tissue disorders, and cases of SIH onset after trivial trauma have been reported. As SIH is often underdiagnosed, the aim of this study is to identify possible new risk factors of SIH onset in a case series of SIH patients. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 36 patients diagnosed with SIH. We reviewed and identified potential factors that led to or presented at headache onset in SIH patients. RESULTS: We identified 4/36 (11%) patients that had a close temporal relationship between the onset of SIH symptoms and airplane travel. In all four patients, the clinical and imaging features confirmed the diagnosis of SIH. CONCLUSION: This is the first report of a case series of four patients with SIH that could be related to airplane travel. Describing four cases (11%) is not proof but should alert us to a possible causal relationship, which calls for further research. We suggest that when taking medical history, thorough details about the patient's activities, such as headache onset, should be documented because of their importance in correctly diagnosing SIH, which is a debilitating, yet treatable, disease.
Quality of life in patients with glioblastoma and their relatives.
Ståhl P, Henoch I, Smits A … +2 more , Rydenhag B, Ozanne A
Acta Neurol Scand · 2022 Jul · PMID 35470866 · Full text
OBJECTIVES: Glioblastoma is the most aggressive primary brain tumour in adults. The rapid decline of physical and cognitive functions is likely to affect patients and relatives during the entire course of disease. The ai...
OBJECTIVES: Glioblastoma is the most aggressive primary brain tumour in adults. The rapid decline of physical and cognitive functions is likely to affect patients and relatives during the entire course of disease. The aim of this study was to describe and compare (a) health-related quality of life (HRQoL) and psychological symptoms between patients with glioblastoma and their relatives, and (b) HRQoL between patients and a general population over time. METHODS: At baseline, 63 patients and 63 relatives were included. The participants completed the Short Form Health Survey (SF-36) and the Hospital Anxiety and Depression scale (HADS) at seven different occasions from pre-surgery until two years post-surgery. A comparison of SF-36 was made between patients and an age- and gender-matched control group. Descriptive analysis, effect size and Wilcoxon signed-rank test were used. RESULTS: Relatives scored lower health-related quality of life (HRQoL) and higher symptoms of anxiety than patients, whilst patients scored worse in the physical parts of the SF-36. Three weeks post-surgery, relatives scored their lowest HRQoL and had the highest risk of anxiety symptoms. Comparing patients with controls, the patients rated worse in both the mental and physical component summaries in HRQoL at most time points. CONCLUSION: Both patients and relatives showed deterioration of HRQoL. In addition, relatives showed high frequency of anxiety symptoms. Our data reveal that relatives of patients with glioblastoma need attention throughout the disease trajectory and they also need support at the right time point.
Blood biomarkers for HIV infection with focus on neurologic complications-A review.
Hagberg L, Edén A, Zetterberg H … +2 more , Price RW, Gisslén M
Acta Neurol Scand · 2022 Jul · PMID 35470863 · Full text
Although clinical examinations, neuroimaging, and cerebrospinal fluid analyses are the most important ways to evaluate the impact of HIV infection on the brain and in diagnosis of opportunistic infections, several blood...
Although clinical examinations, neuroimaging, and cerebrospinal fluid analyses are the most important ways to evaluate the impact of HIV infection on the brain and in diagnosis of opportunistic infections, several blood biomarkers including HIV RNA concentrations, CD4 +T-cell count, and neurofilament light chain protein (NfL) concentration, along with tests for opportunistic infections can provide important information for clinical decisions.
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