Acta neurologica Belgica最新文献

Facial onset sensory and motor neuronopathy (FOSMN) is a rare neurological disorder that combines features of both sensory neuropathy and motor neuron disease. Its clinical resemblance to trigeminal neuralgia and amyotrophic lateral sclerosis (ALS) often leads to delayed or incorrect diagnosis. Recent evidence suggests that FOSMN may represent a sensory-onset variant within the ALS spectrum, characterised by the addition of cranial and limb sensory involvement. The present report highlights this diagnostic challenge and emphasises that FOSMN can occur with prominent sensory symptoms and cranial nerve dysfunction even in the absence of significant bulbar features. Recognising this pattern broadens the classical understanding of motor neuron diseases, which are traditionally viewed as purely motor disorders. Awareness of such presentations and the use of targeted neurophysiological tests, particularly blink reflex studies, are essential for accurate diagnosis and better characterisation of this rare and evolving disease spectrum.

Background: Cerebral microbleeds (CMBs) are highly prevalent in patients with Parkinson's disease (PD), but their impact on clinical symptom severity and genetic association remains unclear. This study investigates the relationship between CMBs and PD severity.

Methods: We recruited patients with PD from the outpatient clinic and inpatient wards of the First Affiliated Hospital of Chongqing Medical University. All participants had undergone susceptibility-weighted imaging (SWI) and had complete clinical assessments. Participants were categorized into groups based on their CMB count. We subsequently analyzed the risk factors for CMBs and examined the correlations between CMB burden and motor, cognitive, and emotional function, respectively. Furthermore, utilizing a genome-wide association study (GWAS) dataset, we investigated the association between genetic susceptibility to CMBs and PD severity preliminarily by Mendelian randomization (MR).

Results: Among 158 patients with PD, 53 (33.5%) were found to have CMBs. Age, disease duration, and hypertension were independently associated with the presence of CMBs (p < 0.05). Multiple linear regression analysis indicated that a higher CMB burden was associated with poorer motor function and the presence of anxiety disorders. To gain deeper insight into the relationship between CMB and severity of PD, MR analysis further suggested that genetic susceptibility to CMBs is potentially causally linked to worse motor function (OR = 1.301, p = 0.047), lower scores on the Montreal Cognitive Assessment (MoCA) (OR = 0.207, p = 0.021) and the Mini-Mental State Examination (MMSE) (OR = 4.915, p = 1.63E-08), as well as an increased risk of dementia in PD (OR = 4.915, p = 1.63E-08).

Conclusion: The high prevalence of CMBs was associated with age, disease duration, and hypertension. Furthermore, our MR analysis provides preliminary evidence that a higher CMB burden may exacerbate the severity of Parkinson's disease.

Background: The brainstem is a vital component of the cerebro-cerebellar network underlying cognition, however it remains unclear whether brainstem volumes are associated with cognitive functioning in MS.

Objective: Investigate the relationship between brainstem volumes and cognitive impairment in MS, as assessed by the BICAMS battery (processing speed, verbal and visuospatial memory).

Methods: We analyzed data from the VOLUMS (Volumetry in MS) study, including 143 MS patients. Magnetic resonance imaging (1.5/3.0 T, 3DT1-weighted images) was used for brain volumetrics and brainstem lesion counts. Cognitive data were collected using the "Brief International Assessment of Cognition for Multiple Sclerosis" (BICAMS). Correlation and stepwise logistic regression explored associations between brain volumes and cognitive performance. In a subset of 35 patients with 3-year follow-up, longitudinal changes in brain volumes and cognition were also assessed.

Results: Cognitive impairment (≥ 2 standard deviations below predicted scores on at least one test) was present in 30.1% of participants. No significant correlations were found between brainstem volume and cognitive scores. Hippocampus (p = .046), thalamus (p = .024), cortex (p < .001), and gray matter (p < .001) volumes were significantly lower in cognitively impaired patients. Processing speed correlated with cortex (R = .217, p = .009) and GM (R = .206, p = .013), while verbal memory correlated with hippocampus (R = .218, p = .009), cortex (R = .251, p = .003) and GM (R = .275, p = .001) volumes. Disease duration was the only significant predictor of cognitive impairment (p < .001). In the longitudinal subset, no clear evidence of progressive volumetric decline or related cognitive deterioration was observed.

Conclusion: While no link was found between brainstem volumes and cognitive impairment, this analysis underscores the importance of considering various brain structures in understanding cognitive impairment in MS.

Background and aim: Neuromuscular diseases (NMDs) are a heterogeneous group of diseases including motor neurone diseases (MND), muscle diseases (MD), neuropathies and neuromuscular junction diseases (NMJD). NMDs are characterized by a wide range of symptoms and findings, depending on different underlying issues. Therefore, the literature includes specific management and/or rehabilitation recommendations for each subgroup and even for some diseases within these subgroups. Currently, neither in our country nor globally is there a comprehensive recommendation study that thoroughly addresses all aspects of NMD rehabilitation developed by experienced and specialized multidisciplinary experts in the field.

Materials and methods: The recommendations in this paper have been created by a multidisciplinary team for all patients without age limitation under the headings of peripheral neuropathy/polyneuropathy, MND, MD and NMJD using the seven-step and 3 round modified Delphi method via e-mail. The strength of agreements (SOA) was calculated for each item (recommendation) using percentages (response of between 8 and 10%), median values, and interquartile range with Kappa method.

Results: The opinions of the experts were analysed according to the 3-round modified Delphi method, and a list of 110 items of recommendations for patients with NMDs of all ages was prepared in as much detail as possible to shed light on almost all questions and problems that may be encountered in clinical practice. There were 5 recommendations in the general management subsection, 20 recommendations in the rehabilitation indications subsection, 8 recommendations in the rehabilitation contraindications section, and 77 recommendations in the rehabilitation section (general principles 7 recommendations, modalities 13 recommendations, exercise characteristics 57 recommendations).

Conclusion: We think that this study will be a light for physicians dealing with this patient group in clinical practice, as it includes fine details up to exercise prescriptions.

Background: The mitochondrial tRNALeu (MT-TL1) m.3243A > G mutation is one of the most frequent pathogenic variants in mtDNA which is associated with various clinical syndromes including Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes (MELAS). The onset of symptoms associated with the MT-TL1 mutation typically occurs in adolescence or early adulthood. Due to the diversity of its clinical presentation, there is a need to report all cases that do not fully meet the criteria of well-established clinical syndromes.

Case presentation: This paper reports a case of a 3-year-old male patient with a complex perinatal history, whose symptoms emerged at 6 months of age and included epileptic seizures, developmental delay, bilateral convergent strabismus, hypertonia, hyperreflexia, and radiological brain abnormalities. The family history is positive for epilepsy and hearing impairment in females on the maternal side. Genetic testing revealed a pathological variant in the MT-TL1 gene m.3243A > G with a high heteroplasmy level of 76.5% in the blood sample.

Conclusion: The case presents an atypical manifestation of the m.3243A > G mutation, highlighting the importance of genetic screening for mitochondrial disorders in patients with a maternal family history.

Mitochondrial DNA (mtDNA) maintenance defects (specifically mtDNA depletion syndromes, MDS) are autosomal recessive disorders caused by a severe reduction in mtDNA content, leading to impaired oxidative phosphorylation and energy deficiency in affected tissues. The clinical heterogeneity of mtDNA maintenance defects correlates with specific gene mutations, with POLG being one of the most frequently implicated genes in mitochondrial dysfunction. We report a novel case of mtDNA maintenance defects manifesting with progressive ocular symptoms, including blepharoptosis, blurred vision, and diplopia, associated with a rare homozygous POLG mutation (c.924G > T, p.Gln308His), which is the second reported homozygous variant at this nucleotide site. Among five previously reported POLG c.924G > T-associated MDS cases, 4 are heterozygous (compound heterozygous or combined with other mitochondrial gene variants). POLG encodes DNA polymerase γ, essential for mtDNA replication; mutations impair mitochondrial function, reducing respiratory chain activity and ATP production. This case adds to the existing literature on the phenotypic variability of POLG-related disorders and expands the known spectrum of pathogenic POLG variants. Despite the rarity of this mutation, its clinical presentation is consistent with classic progressive external ophthalmoplegia (PEO), underscoring the importance of genetic testing in diagnosing mtDNA maintenance defects. Further studies are needed to clarify genotype-phenotype correlations and develop targeted therapeutic strategies for POLG-associated mitochondrial dysfunction.

Objective: Intracranial infection, as a complication of craniotomy, has a relatively low incidence rate. However, completely preventing post-craniotomy intracranial infections (PCI) remains challenging. Although established protocols exist for managing PCI, patients with severe infections still face risks of disability and mortality. This study aims to analyze high-risk factors for intracranial infections after craniotomy and explore preventive and management strategies to provide guidance for clinical practice.

Methods: The authors retrospectively analyzed clinical data from 742 patients who underwent craniotomy between July 2018 and December 2024. 31 cases of PCI were included in the case group, while 711 non-infected cases served as the control group. Demographic, clinical, laboratory, and surgical data were compared between the two groups. Univariate analysis and binary logistic regression models were used to identify risk factors for intracranial infection.

Results: In this study, the incidence of PCI in the authors' neurosurgery department was 4.18%. The infection group showed significantly higher rates of prolonged hospitalization, cerebrospinal fluid (CSF) leakage, intensive care unit (ICU) admission, elevated C-reactive protein (CRP) levels, American Society of Anesthesiology (ASA) class > 3, infratentorial surgery, and ventricular drainage placement compared to the control group. Conversely, the infection group had significantly lower Glasgow Coma Scale (GCS) scores (all p < 0.05). Univariate analysis identified emergency surgery, reoperation, posterior fossa surgery, ventricular drainage placement, ASA > 3, postoperative CSF leakage, ICU admission, stress ulcers, hemoglobin ≤ 110.82 g/L, hyperlipidemia, and high-density lipoprotein (HDL) ≤ 0.89 mmol/L as significant risk factors (p < 0.05). Binary logistic regression revealed CSF leakage (OR: 19.28, 95% CI: 5.24-70.90) and ventricular drainage surgery (OR: 8.18, 95% CI: 2.53-26.39) as independent risk factors.

Conclusions: Postoperative CSF leakage and ventricular drainage are critical risk factors for intracranial infection after craniotomy. Preventive measures, including meticulous watertight dural closure, preservation of the temporal muscle fascia during suturing, subcutaneous tunneling of ventricular drains, and improved postoperative drain management, may decrease infection rates. Timely CSF drainage and targeted antimicrobial therapy are essential for managing established infections.

Glioblastoma (GBM) is a highly malignant primary brain tumor known for its heterogeneity, infiltrative growth, and poor prognosis. Standard treatment includes surgery, radiation, and chemotherapy. Although the therapeutic options remain limited, immunotherapy provides new hope for treating GBM that has relapsed following standard therapies by boosting the immune system to inhibit tumor growth. The tumor immune microenvironment (TME) plays crucial roles in GBM progression and immunotherapy resistance. Since activated immune cells can penetrate far-off and impenetrable tumor cells, immunotherapy is a viable alternative. Immunotherapy has improved patient outcomes for a number of cancers and may offer GBM patients new, more efficient treatment options. To address both the innate and acquired immune responses in GBM patients, researchers are currently investigating a variety of immunotherapeutic approaches. Immune checkpoint mechanisms are emerging as promising targets. Furthermore, CAR-T-cell therapy offers new hope for enhancing treatment efficacy. Understanding the interplay between the TME, immune checkpoints, and therapeutic modalities is crucial for developing new standards of treatment. Thus, this review discusses recent advancements, challenges, and future directions in immunotherapy for patients with glioblastoma.