Acta neurologica Belgica最新文献

A 21-year-old woman presented with a severe tremor and involuntary spasms in her hands. Her tremor started at the age of seven, and while it was initially mild and only in bilateral upper extremities, its severity increased over time. There is no consanguinity between her parents, and her early developmental milestones are consistent with her age. Her father had involuntary movements with similar semiology. The neurological examination revealed a mild intellectual disability, head titubation, postural and action tremors, and dystonia affecting the bilateral distal upper extremities. Brain magnetic resonance imaging and investigations for neurometabolic diseases were normal. Exome sequencing analysis revealed a heterozygous likely pathogenic variant of ANO3 gene ([NM_031418.4]:c.1943A>G p.[Asn648Ser]), and she was diagnosed with ANO3-related dystonia (DYT-ANO3). She was started on trihexyphenidyl, and at the follow-up, partial improvement in her involuntary movements was observed.DYT-ANO3 caused by pathogenic variants of ANO3 gene were first described in families affected by adult-onset tremulous craniocervical dystonia, and since then, the phenotypic spectrum has expanded significantly. The onset of clinical features may vary from the first months of life to adulthood, and cases may present with a wide range of clinical spectrum, from focal/segmental to generalized dystonia, and from isolated to tremulous or jerky dystonia. Cases with the same genotype may present with movement disorders of different characteristics, suggesting that there is no definitive genotype-phenotype correlation in DYT-ANO3 cases. Additionally, cases with nondystonic features, such as nondystonic tremor, myoclonus and/or neurodevelopmental delay have also been reported.

Background: Acquired brain injury (ABI) includes conditions such as cerebral stroke or traumatic brain injury and is a major cause of disability. People with ABI are one of the largest groups requiring rehabilitation. Rehabilitation prognosis is an important component for goal setting and life planning. The population average prognosis (overall prognosis) and its variation describes the contextual course of health outcomes. Here, we provide the overall rehabilitation prognosis of Danish patients with moderate to severe ABI who underwent comprehensive post-acute inpatient rehabilitation.

Methods: Routinely collected electronic health record data were extracted for adults with ABI, who were admitted to a Danish highly specialised rehabilitation facility between March 2011 and December 2022. Data were deterministically linked on an individual level where necessary. The Functional Independence Measure and Early Functional Ability scale were the rehabilitation outcomes estimated across demographic and clinical candidate predictors. In addition, the probability of a missing rehabilitation outcome assessment was investigated with logistic regression models.

Results: We included 6571 rehabilitation patients. Most patients were admitted due to ischaemic (48%) and haemorrhagic stroke (16%), or traumatic brain injury (12%); approx. 40% required total assistance on admission. Patients were discharged with a median (IQR) total, motor and cognitive FIM score of 106 (67-117), 80 (47-89), and 26 (19-30), respectively. Patients improved a median (IQR) of 20 (6-40) points on the FIM, or 0.4 (0.1-0.7) points per day of rehabilitation. Persistent limitations at discharge were observed for memory and problem solving. Functional improvements were similar across ABI types. The highest likelihood of a missing rehabilitation outcome assessments was observed in patients with moderate rehabilitation needs, short rehabilitation stays and long onset-admission intervals.

Conclusions: The present study provides estimates for the overall rehabilitation prognosis for patients with moderate to high rehabilitation needs, undergoing post-acute ABI rehabilitation in a highly specialised inpatient rehabilitation facility. In our large and diverse cohort, we provide estimates for overall rehabilitation outcomes, including probabilities for missing rehabilitation outcome assessments. The provided estimates may inform future prognosis research studies in similar populations or enable comparisons with other healthcare settings.

Objective: Glossopharyngeal neuralgia (GPN) is a rare craniofacial pain disorder causing paroxysmal throat and ear pain. For medically refractory cases, microvascular decompression (MVD) targets the underlying neurovascular compression and offers a potentially curative treatment. This systematic review and meta-analysis aimed to evaluate the efficacy, safety, and durability of MVD for GPN and identify predictors of outcome.

Methods: A comprehensive search of PubMed, Embase, Scopus, and Web of Science was conducted up to August 24, 2025, following PRISMA guidelines. Eligible studies included patients with clinically or radiologically confirmed GPN treated with MVD. Pooled estimates were calculated using random- or fixed-effects models, and heterogeneity, publication bias, and meta-regression analyses were performed.

Results: Twenty-five studies encompassing 1,009 patients were analyzed. The pooled rate of initial complete pain relief was 94.2% (95% CI: 90.2-97.3%), and long-term complete relief was 92.1% (95% CI: 86.9-96.2%). Pain recurrence occurred in 2.3% (95% CI: 0.5-4.8%), and permanent complications in 1.7% (95% CI: 0.2-4.2%). Meta-regression identified longer disease duration and prior MVD as negative predictors, while arterial compression and older age favored better outcomes.

Conclusion: MVD provides excellent and durable pain relief with minimal morbidity, confirming its role as the gold-standard treatment for classical GPN. Prospective, standardized studies are warranted to refine patient selection and optimize outcomes.

Background: Functional Cognitive Disorder (FCD) is defined by persistent subjective cognitive complaints that are inconsistent with objective performance on neuropsychological testing. One leading hypothesis suggests that FCD may involve a dissociation between different forms of metacognition, particularly between global and local self-monitoring mechanisms.

Objective: To quantitatively synthesize the evidence for global and local metacognitive performance in individuals with FCD through meta-analysis.

Methods: We conducted a systematic review and meta-analysis of studies measuring metacognitive performance in FCD, including comparisons with healthy controls and mild cognitive impairment (MCI). Global metacognition was assessed using self-appraisal metrics, while local metacognition was measured using trial-by-trial confidence accuracy tools such as meta-d'/d'. Effect sizes (Cohen's d) were calculated and pooled using random-effects models.

Results: Three studies were included in the global metacognition analysis, revealing a large pooled effect size indicating impaired global metacognition in FCD (Cohen's d = - 1.07). One study assessed local metacognition and showed no impairment (Cohen's d = 0.00). This supports the proposed dissociation, with preserved local but disrupted global self-monitoring.

Conclusion: Our findings provide meta-analytic evidence for a substantial deficit in global metacognitive insight in individuals with FCD, while local metacognitive abilities remain relatively intact. These results offer a mechanistic explanation for the discrepancy between subjective complaints and objective test performance in FCD. Interventions targeting global metacognitive appraisal may enhance clinical outcomes. Given the very small number of eligible studies, these findings should be interpreted cautiously and viewed as preliminary.

Objective: Diagnosing prolonged disorders of consciousness (DoC) remains a significant challenge in neurorehabilitation. Heart rate variability (HRV), a noninvasive measure of cardiac autonomic regulation, has been increasingly recognized as relevant to the mechanisms underlying consciousness. However, long-term HRV data in DoC patients remain scarce. This study aimed to investigate the relationship between long-term HRV metrics and the severity of consciousness impairment in patients with prolonged DoC.

Methods: In this cross-sectional study, 49 patients with prolonged DoC were enrolled. Each participant underwent five assessments using the Coma Recovery Scale-Revised (CRS-R) and one 24-hour electrocardiographic (ECG) monitoring session within one week of enrollment. Based on their highest CRS-R subscale scores, patients were categorized into three groups: unresponsive wakefulness syndrome (UWS, n = 17), minimally conscious state (MCS, n = 19), and emergence from MCS (EMCS, n = 13). HRV time-domain and frequency-domain indices were extracted from the 24-hour ECG recordings. Differences in HRV metrics among the consciousness groups were analyzed, and correlations between HRV parameters and CRS-R scores were examined.

Results: Significant differences in HRV metrics were observed among the three consciousness groups (P < 0.05), including both time-domain indices (SDNN, SDANN, SDNN Index) and frequency-domain indices (HF, LF, VLF, ULF, and Total power). Furthermore, these HRV indices were significantly correlated with CRS-R scores (P < 0.05), indicating a strong association between autonomic function and the level of consciousness.

Conclusion: Long-term HRV monitoring reveals significantly greater heart rate variability in EMCS patients compared to those in UWS and MCS, highlighting its potential utility as a supplementary biomarker for assessing consciousness in patients with prolonged DoC.

Background and objectives: In stroke thrombi, neutrophil extracellular traps (NETs) have been hypothesized to promote thrombogenic processes that enhance stability and decrease amenability to thrombolysis and endovascular removal. Here, we examined the relationship between NET enrichment and clot structure and mechanical properties.

Methods: Platelet-rich plasma and red blood cells (RBCs) were isolated from human blood and mixed with concentrated white blood cells to produce no-RBC and high-RBC clot analogs (0% and 40%, respectively). Lipopolysaccharide (LPS) was added at 3 different concentrations to enrich clots with varying amounts of NETs. Clots were analyzed mechanically using a uniaxial stretch tester. Clots were also imaged by microCT, and histology was used to investigate biologic structure and composition, as well as NET enrichment. Statistical analysis was completed to assess stiffness, radiomic, and histological features among clots of various NET enrichment. Clustering was performed on radiomic and histological image features to identify feature signatures unique to NET-enriched clots, and correlation was performed to identify radiomics and histomics related to NET enrichment.

Results: LPS enriched clots with NETs in a dose-dependent manner, and NETs were associated with greater microstructural complexity. For fibrin-platelet rich clots (0% RBCs), NET enrichment produced a significant increase in mechanical stiffness as measured by Young's Modulus, as well as in breaking strength. For each percent composition, radiomic and histomic profiling clustered clot analogs well by NET-enrichment, with NET-enriched clots demonstrating radiomic and histological texture feature correlations distinct from clots without NETs.

Conclusion: NET enrichment produces mechanically stiffer stroke clot analogs with distinct microstructure, radiomic, and histological profiles.

X-linked adrenoleukodystrophy (X-ALD) is a rare, inherited peroxisomal disorder caused by pathogenic variants in the ABCD1 gene, which encodes an ATP-binding cassette transporter located on Xq28. These pathogenic variants result in defective peroxisomal beta-oxidation and accumulation of very long-chain fatty acids (VLCFAs) in plasma and tissues, primarily affecting the adrenal cortex, myelin in the central nervous system, and Leydig cells. The estimated incidence is approximately 1 in 17,000 individuals (Kemp et al. 2016). Clinically, X-ALD is characterized by a broad phenotypic spectrum, including three main presentations: isolated adrenocortical insufficiency, adrenomyeloneuropathy (AMN), and cerebral X-ALD (Raymond et al. 1999). Considerable clinical overlap exists among these forms, and disease severity can vary. The cerebral form most commonly presents in childhood, between ages 4 and 8, whereas adult-onset cerebral X-ALD is rare, representing only about 1% of cases (Bezman et al., American Journal of Medical Genetics. 76(5):415-419, 1998). The parieto-occipital white matter is classically involved, while predominant frontal lobe lesions are unusual. Misdiagnosis is frequent, with rates up to 31%, particularly when cognitive and behavioral changes mimic frontotemporal dementia (Jiang et al., Acta Neurologica Belgica. 123(6):2259-2268, 2023). This report describes a 53-year-old man with an atypical adult-onset cerebral X-ALD presenting with frontal lobe involvement and rapid progression. The case underscores the importance of considering X-ALD in adults presenting with atypical cognitive decline and non-classical MRI patterns.