Acta Neurologica Scandinavica
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Acta Neurologica Scandinavica aims to publish manuscripts of a high scientific quality representing original clinical, diagnostic or experimental work in neuroscience.

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Research Article

The Relationship between Motor Symptoms, Signs, and Parkinsonism with Facial Emotion Recognition Deficits in Individuals with 22q11.2 Deletion Syndrome at High Genetic Risk for Psychosis

Background. The 22q11.2 Deletion Syndrome (22q11.2DS) is a genetic condition at high risk of developing both psychosis and motor disorders. Social Cognition (SC) deficits have been associated not only with schizophrenia but also with Parkinson’s disease (PD). The present study assessed SC deficits in 22q11.2DS and investigated the interaction between motor symptoms and deficits in Facial Emotion Expressions (FEE) recognition and in Theory of Mind (ToM) tasks in people with 22q11.2DS. Methods. We recruited 38 individuals with 22q11.2DS without psychosis (, DEL) and 18 with 22q11.2DS and psychosis (, DEL_SCZ). The Positive And Negative Syndrome Scale (PANSS), Ekman’s 60 Faces Test (EK-60F), the Awareness of Social Inference Test (TASIT EmRec), and the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale part III (UPDRS III) were administered. Correlations were sought between UPDRS III and both TASIT EmRec and EK-60F scores. Analyses were conducted separately for each psychopathological subgroup. Results. Higher UPDRS III () and lower EK-60F () scores were observed in the DEL_SCZ group. We found inverse correlations between UPDRS III and both TASIT EmRec (, ) and EK-60F (, ) scores in the whole sample. Correlations were no longer significant in the DEL_SCZ group (UPDRS III-TASIT EmRec ; UPDRS III-EK60F ) whilst being stronger in the DEL group (TASIT EmRec, , ; EK60F, , ). Analyses were adjusted for CPZ Eq and IQ. Conclusions. A modulation between FEE recognition deficits and motor symptoms and signs was observed in the 22q11.2DS group, likely affecting patients’ quality of life.

Research Article

Altered Cerebellar Volumes and Intrinsic Cerebellar Network in Juvenile Myoclonic Epilepsy

Objectives. This study is aimed at investigating the alterations in cerebellar volumes and intrinsic cerebellar network in patients with juvenile myoclonic epilepsy (JME) in comparison with healthy controls. Methods. Patients newly diagnosed with JME and healthy controls were enrolled. Three-dimensional T1-weighted imaging was conducted, and no structural lesions were found on brain magnetic resonance imaging. Cerebellar volumes were obtained using the ACAPULCO program, while the intrinsic cerebellar network was evaluated by applying graph theory using the BRAPH program. The nodes were defined as individual cerebellar volumes and edges as partial correlations, controlling for the effects of age and sex. Cerebellar volumes and intrinsic cerebellar networks were compared between the two groups. Results. Forty-five patients with JME and 45 healthy controls were enrolled. Compared with the healthy controls, the patients with JME had significantly lower volumes of the right and left cerebellar white matter (3.33 vs. 3.48%, ; 3.35 vs. 3.49%, ), corpus medullare (0.99 vs. 1.03%, ), and left lobule V (0.19 vs. 0.22%, ). The intrinsic cerebellar networks also showed significant differences between the two groups. The small-worldness index in the patients with JME was significantly lower than that in the healthy controls (0.771 vs. 0.919, ). Conclusion. The cerebellar volumes and intrinsic cerebellar network demonstrated alterations in the patients with JME when compared with those of the healthy controls. Our study results provide evidence that the cerebellum may play a role in the pathogenesis of JME.

Research Article

Outcomes of Endovascular Treatment for Posterior Circulation Stroke According to the Underlying Pathologic Mechanism: A Retrospective Single-Center Analysis

Objectives. This study investigated the functional outcomes and safety of endovascular treatment in patients with posterior circulation stroke according to whether the underlying mechanism was arterial embolism or intrinsic atherosclerosis. Materials and Methods. A total of 108 consecutive patients with posterior circulation ischemic stroke who received endovascular treatment between January 2018 and December 2021, 58 with arterial embolism and 50 with intrinsic atherosclerosis, were identified. The overall and basilar artery occlusion subgroup analyses were retrospectively conducted between the two study groups using a logistic regression model. Results. The rate of successful reperfusion (modified Thrombolysis in Cerebral Infarction score 2b–3) was comparable in the embolism versus intrinsic group (96.6% versus 90.0%; adjusted odds ratio [aOR] 0.73, 95% confidence interval [CI] 0.01–42.74; ). There was no significant difference in the frequency of a moderate outcome between the two groups (modified Rankin Scale [mRS] score 0–3: 43.1% versus 58.0%; aOR 0.63, 95% CI 0.15–2.50; ), frequency of a favorable outcome (mRS 0–2: 39.7% versus 38.0%; aOR 1.59, 95% CI 0.37–6.70; ), the 90-day mortality rate (34.5% versus 26.0%; aOR 2.31, 95% CI 0.50–10.63; ), or frequency of symptomatic intracranial hemorrhage (6.9% versus 2.0%, respectively; ). The subgroup analysis in patients with basilar artery occlusion found no significant between-group difference in any of the abovementioned clinical outcomes (all ). Conclusion. This study indicated that the mechanism of posterior circulation stroke had no significant effect on the functional outcomes after endovascular treatment or on procedural safety.

Research Article

Sociodemographic Factors, Nutritional Status, and Inflammatory Markers in Patients with Postural Orthostatic Tachycardia Syndrome

Objectives. Postural orthostatic tachycardia syndrome (POTS) is characterized by cardiovascular autonomic dysfunction of unknown etiology with high a prevalence of gastrointestinal symptoms. The aim of the present study was to examine sociodemographic, lifestyle, and nutritional factors as well as inflammatory markers in patients with POTS. Materials and Methods. Forty-three patients with POTS and 61 healthy controls completed questionnaires about sociodemographic factors, lifestyle habits, and gastrointestinal symptoms. Blood samples were analyzed for serum levels of cobalamins, folic acid, iron, total iron-binding capacity (TIBC), ferritin, sodium, potassium, magnesium, phosphorus, albumin, high-sensitive C-reactive protein (CRP), and 25-hydroxyvitamin D (25-OH vitamin D). Results. POTS patients were predominantly women with a lower education level and were more often working part-time, on sick leave, and living alone compared with healthy controls. They reported lower alcohol intake and physical activity levels than controls. The nutrient intake was in general similar in both groups, but POTS patients had a higher intake of different drinks and reported more gastrointestinal symptoms than controls. POTS was associated with higher CRP levels (β: 1.370; 95% CI: 0.004–2.737; ), lower albumin levels (β: -1.443; 95% CI: -2.648–(-0.238); ), and higher sodium levels (β: 1.392; 95% CI: 0.559–2.225; ). Abdominal pain () and intestinal symptoms’ influence on daily life () were negatively associated with albumin levels. Abdominal pain (), vomiting and nausea (), and intestinal symptoms’ influence on daily life () were associated with higher sodium levels. Serum levels representing iron and vitamin metabolism were equal between groups. Conclusions. POTS is associated with poorer sociodemographic status, but malnutrition cannot explain POTS or related gastrointestinal symptoms. Higher CRP and lower albumin levels suggest low-grade inflammation as one possible etiological factor.

Review Article

Diagnostic Role of Tau Proteins in Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-Analysis

Background. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that currently lacks reliable diagnostic biomarkers. The meta-analysis is performed with an aim to evaluate the diagnostic potential of cerebrospinal fluid (CSF) total tau (t-tau), phosphorylated-tau (p-tau), and their ratio in ALS patients. Methods. A comprehensive search for literature published between the 1st of January 2000 and the 15th of May 2022 was performed in databases PubMed, medRxiv, and Google Scholar. The retrieved articles were first screened by title and abstract, and later, full-text screening was performed based on the eligibility criteria. Data on p-tau and t-tau levels and p-tau/t-tau ratio in ALS patients and controls were extracted, and a meta-analysis was performed using random-effects models in Review Manager version 5.4. Results. Data were analyzed from seven studies reporting p-tau and t-tau levels and their ratio among ALS patients and controls. The number of total study participants was 1,100. In ALS patients, the levels of p-tau didn’t differ significantly with controls (standardized mean difference (SMD): 0.14 (95% CI: -0.41 to 0.70); ). In contrast, there were significantly elevated levels of t-tau and significantly lowered p-tau/t-tau ratio in ALS (SMD: 1.76 (95% CI: 0.53 to 2.98); and SMD: -3.09 (95% CI: -5.33 to -0.86); , respectively). Conclusion. Our meta-analysis study supports the role of core CSF biomarkers of neurodegeneration: t-tau and p-tau/t-tau ratio as a diagnostic biomarker of amyotrophic lateral sclerosis. This study found that t-tau is elevated while p-tau/t-tau ratio is lowered in ALS.

Research Article

Changes in Retinal Thickness and Brain Volume during 6.8-Year Escalating Therapy for Multiple Sclerosis

Background. Different disease-modifying therapies (DMT) for multiple sclerosis (MS) have disparate effects on disability outcomes. Sweden has a leading position globally in initiating high-efficacy DMT instead of escalating DMT from 1st-line to high-efficacy DMT. With optical coherence tomography (OCT), retinal changes can be measured at a few micrometer level. OCT has been increasingly applied in diagnosing MS and monitoring disease course and therapeutic effect. Objective. We investigate the effects of 1st-line versus high-efficacy DMT for MS on retinal and brain atrophy and on functional outcomes during 6.8 years of escalating DMT. Materials and Methods. In this prospective longitudinal observational study, 18 MS patients were followed up for 6.8 years. Twelve of the patients were untreated at baseline. All patients underwent 1st-line DMT for median duration of 2.4 years and then switched to high-efficacy DMT for a median duration of 2.9 years. Findings from neurological examinations, MRI, and OCT measures were registered 2-4 times per year. Results. Ganglion cell-inner plexiform layer (GCIPL) thickness was significantly reduced during 1st-line DMT (73.75 μm, ) compared to baseline (76.38 μm). During high-efficacy DMT, thickness reduction was slower (73.27 μm, ), and MRI contrast-loading lesions vanished (). However, brain parenchymal fraction (BPF) decreased during high-efficacy DMT compared to 1st-line DMT. Estimated models showed similar results. Conclusion. GCIPL decline was most profound during 1st-line DMT and diminished during high-efficacy DMT. MRI contrast lesions vanished during high-efficacy DMT. However, brain atrophy continued regardless of high-efficacy DMT.

Acta Neurologica Scandinavica
Publishing Collaboration
More info
Wiley Hindawi logo
 Journal metrics
See full report
Acceptance rate-
Submission to final decision-
Acceptance to publication-
CiteScore5.500
Journal Citation Indicator0.830
Impact Factor3.915
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Article of the Year Award: Outstanding research contributions of 2021, as selected by our Chief Editors. Read the winning articles.