Ataxia, tremors, dysarthria, and sometimes impaired cognition are the signs of cerebellum involvement in multiple sclerosis (MS). These symptoms affect up to 80% of patients and are usually hard to treat. To find the underlying involvement of the cerebellum in MS, we assessed the microstructural alterations with DTI in the cerebellar peduncles of the affected subjects.

Balance and motor functions are associated with a complex sensory-cognitive-motor system that is not reliant on a single component. In people with Multiple Sclerosis (pwMS), deficits in cognitive domains may cause abnormal gait and balance disorders. Therefore, the impact of cognitive rehabilitation (CR) on motor and balance functions in pwMS was investigated.

Cerebrospinal fluid (CSF) rhinorrhea causes the loss of CSF, resulting in a decrease in intracranial pressure and a lack of CSF protection in brain tissue. CSF rhinorrhea may cause impairment of posterior cranial nerves resulting in facial paralysis and vertigo. However, dysarthria caused by involvement of glossopharyngeal nerves and vagus nerves has seldom been reported. Here, we reported a 69-year-old woman who had paroxysmal slurred speech due to CSF rhinorrhea together with paroxysmal facial paralysis.

Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder characterized by distinct facial features, microcephaly, short stature, intellectual disability, and subtle neuroimaging abnormalities. The syndrome is attributed to a loss of function mutation in the SIN3A gene, a member of the switch-insensitive 3 transcription regulator family. Herein, we present a 21-year-old woman with dysmorphic facial features, short stature, and a chronic, progressively worsening symmetric cerebellar ataxia, along with generalized dystonia. Whole-exome sequencing identified a heterozygous mutation in exon 7 of the SIN3A gene (c.1051 C>T, p.Pro351Ser), consistent with a diagnosis of WITKOS. Notably, dystonia has not been previously associated with this syndrome. This case underscores the clinical variability and broadens the phenotypic spectrum of WITKOS.

One of the most prevalent clinical subtypes of cerebral palsy (CP) is diplegia. Most children with diplegia have weakness in axial muscles and spasticity in extremities which have adverse impacts on trunk control and manual coordination of upper extremities.

A key aspect of hand function is dexterity, which is described as fine voluntary movements used to manipulate small objects during a specific task. The contralateral hand in children with unilateral cerebral palsy (U-CP); is commonly referred to as a "good" and "unimpaired" hand, while others have noted that it has subtle limitations. Therefore, this study aimed to assess and compare between the strength and dexterity of less-affected hand of children with U-CP and the dominant hand of normal peers.

A 60-year-old male patient with a previously unremarkable medical history presented with unilateral eyelid ptosis and binocular diplopia in the past year. Clinical and laboratory workup confirmed the diagnosis of ocular myasthenia gravis. In addition, further workup with orbital MRI performed due to exophthalmos and unilateral ophthalmoplegia demonstrated findings compatible with thyroid eye disease, which were further verified by antibody testing. The unusual concurrent appearance of ocular myasthenia gravis and thyroid eye disease is presented while illustrating the hallmark clinical, laboratory, and imaging findings relevant to both diseases.

The 18th annual meeting of the Genetic Epidemiology of Parkinson's disease (GEoPD) consortium was held on October 30th and 31st, 2023 in the city of Antwerpen (Belgium). GEoPD is a global consortium of researchers dedicated to promoting education, basic and translational research in Parkinson's disease. The consortium has been operating since 2004, and has an active membership from numerous sites on six continents. We were very proud to have scientific participation from renowned clinicians and researchers from different continents. The meeting featured invited oral presentations and poster sessions on genetic stratification, pathogenesis, biomarkers, diagnosis and treatment of Parkinson's disease. In these proceedings of the meeting, we have included abstracts of oral plenary presentations and abstracts of poster presentations.

DYRK1A syndrome, also known as "Intellectual developmental disorder, autosomal dominant 7," is a syndromic intellectual disability characterized by dysmorphic features including deep-set eyes, prominent ears, and retrognathia. Patients have neurodevelopmental problems, ocular anomalies, and multisystem phenotypes. Most cases result from single nucleotide variants causing DYRK1A-haploinsufficiency, while deletions occur in < 15% of cases. This study discusses two patients with DYRK1A haploinsufficiency.

Regular and long-term injections of botulinum toxin (BoNT) are considered the first line therapy for essential blepharospasm (BEB), but no data exists on the long-term effect of this therapy on depressive symptoms and quality of life. This study aims to prospectively evaluate the long-term effects of BoNT therapy on depressive symptoms as well as on daily activities, emotional well-being and quality of life using validated questionnaires (BEB-scale, Beck`s Depression Inventory (BDI)). 86 patients diagnosed with BEB were followed up for a median of 4 years. Clinical symptoms improved significantly after BoNT-injections. Everyday activities and subjective assessment of the overall situation improved gradually under long-term BoNT therapy. Significant correlations (p < 0.0001; r-values between 0.498 and 0.706) were found between the BDI and items of the BEB-scale. No significant antidepressive effect of long-term BoNT therapy was found with a low median BDI total score (5/max. 63), but up to 31.3% of BEB patients had a BDI score ≥ 11, indicating clinically relevant depressive symptoms. Of these, 65.4% had no known history of depression. Although, several studies reported an antidepressant effect of botulinum toxin injections in patients with major depression, this effect does not seem to be present in patients with BEB despite clinical improvement of symptoms. A high prevalence of previously undetected depressive symptoms was found in BEB patients. As this may influence BoNT therapy success, identifying potential depressive symptoms at the time of BEB diagnosis and initiating appropriate treatment seems important.

Stroke is a leading cause of death and disability worldwide. Approximately one-third of patients with stroke experienced a second stroke. This study investigates the predictive value of machine learning (ML) algorithms for recurrent stroke.

Traumatic brain injury (TBI) is a major cause of death and disability in the United States. There is a suggested association between TBI and stroke, emphasizing the need for increased medical monitoring post-trauma. We conducted a systematic review and meta-analysis to investigate the link between previous TBI and the future diagnosis of any type of stroke.

This study aimed to investigate relationships between cholesterol profile, brain volumetric MRI, and clinical measures in a large observational cohort of multiple sclerosis (MS) patients.

While the barriers and facilitators of physical activity adherence are well-defined, there is a limited number of studies focusing specifically on exercise adherence, which is crucial to identify in patients with multiple sclerosis (MS) due to its known disease-modifying effect.

To compare thymic features using unenhanced computed tomography (CT) images between children with non-thymomatous ocular myasthenia gravis (OMG) and healthy children and determine the image feature cut-off values to allow differentiation of the two populations.