The cerebellum is widely recognized for its contributions to motor, cognitive, and affective processes through dynamic cerebello-cortical networks. Recent studies using cerebellar-cortical electroencephalography (EEG), a technique that enables noninvasive, millisecond-resolution recordings of cerebellar and cortical activity, have revealed disease-specific spectral and network alterations in patients with movement and neurodegenerative disorders, including ataxia, essential tremor (ET), Parkinson's disease (PD), dystonia, as well as in healthy individuals. Synchronous cerebellar-cortical EEG reliably detects these signals and captures network dynamics, providing mechanistic insights into cerebellar-specific functions and interactions that may inform the development of brain-computer interfaces, targeted neuromodulation, and future applications in neurological disorders.

Introduction - Dystonia is the third most common movement disorder, which is highly diverse, both clinically and genetically. With the rise of next-generation sequencing, the number of genes associated with dystonia is increasing. Genetic testing is particularly important to predict the effectiveness of widely used therapeutic approaches (e.g., deep brain stimulation/DBS).Case report - The symptoms of a 69-yearold female patient began at the age of 18 years. Her symptoms developed gradually, i.e., cervical abnormal postures and movements first, followed by tongue movement problems, writer's cramp and speech difficulty. At the age of 38, she became severely disabled. During the neurological examination, generalized dystonia as well as occasional choreoathetoid movement elements on the upper limbs were observed. We noticed dysphagia, dysarthria and occasional oro-facial and cervical dyskinesia. Brain magnetic resonance imaging demonstrated minimal cortical atrophy. The whole exome sequencing analysis detected a heterozygous pathogenic nonsense mutation in the VPS16 gene. The patient is currently receiving clonazepam therapy with moderate symptom relief. Trihexyphenidyl treatment has not been attempted because the significant side effects of the previously tried anticholinergic drug. Although DBS was offered, the patient refused this treatment.Conclusion - Dystonia caused by mutation of the VPS16 gene (autosomal dominant) is a recently recognized new form of hereditary dystonia. The disease is characterized by early-onset progressive, generalized dystonia, with the predominant involvement of orofacial, bulbar, cervical and upper limb regions. Currently there is no clear recommendation for treatment, however, beneficial effects of DBS as well as botulinum toxin have been reported.

Functional movement disorders (FMDs) are common but often misdiagnosed among functional neurological disorders. Key findings from this study include frequent diagnostic delays, a predominance of women (70% of cases), and frequent comorbidity with anxiety and mood disorders. Tremor and dystonia were the most common FMD phenotypes. Delayed recognition, high psychiatric comorbidity, and fragmented care emerged as major challenges. Lack of structured psychiatric assessment and low adherence to psychiatric follow-up, especially among those with lower education and in certain occupations, were noted, highlighting important gaps in care. These findings are based on data from a tertiary clinic in the Philippines, an underrepresented setting in the literature. We conducted a cross-sectional review of individual patient data from a Movement Disorders Clinic, including 37 patients diagnosed with FMDs according to established diagnostic criteria. Women accounted for 70% of cases (female-to-male ratio 2.3:1), with a mean age at symptom onset in the late twenties. Tremor (35%) and dystonia (32%) were the most frequent phenotypes, often coexisting. The mean delay from symptom onset to first consultation exceeded three years. There was a significant positive correlation between delay to consultation and total symptom duration (r = 0.497, p < 0.002), suggesting that later presentation is associated with longer symptom duration. Anxiety and mood disorders were the most common psychiatric comorbidities, yet many patients lack formal, structured psychiatric evaluation, indicating gaps in mental health assessment. Only 46% of those referred to psychiatry attended follow-up, with poorer adherence observed among patients with lower educational attainment and in specific occupational groups. These results underscore the major clinical and systemic burdens associated with FMDs in resource-limited healthcare settings. The study emphasizes three key findings: persistent diagnostic delays, the frequent co-occurrence of psychiatric issues, and substantial gaps in integrated care, especially relating to psychiatrically informed follow-up. Early identification of FMDs, integration of neurological and psychiatric services, and efforts to reduce stigma and bolster access, particularly for underserved groups, are essential steps to improve patient outcomes.

Rare neurogenetic and neurometabolic disorders comprise a clinically and genetically heterogeneous group of conditions, frequently presenting with overlapping neurological manifestations such as developmental delay, seizures, and cognitive impairment. Whole-exome sequencing (WES) has emerged as a robust approach for elucidating the molecular basis of these disorders. A total of 184 patients with suspected rare neurological disorders were enrolled in this study. Detailed demographic and clinical data were collected, and WES was performed to identify pathogenic and likely pathogenic variants. Variants were annotated and interpreted using standard guidelines, and inheritance patterns were determined. The cohort showed a slight male predominance, with the majority of cases presenting in early childhood (mean age at onset: 29.62 ± 27.69 months). The most common clinical features included developmental delay (82.06%), seizures (74.4%), and cognitive decline (41.3%), followed by dystonia (25%) and ataxia (17.9%). This study delineates the genetic spectrum of rare neurogenetic and neurometabolic disorders in a clinically heterogeneous cohort and underscores the diagnostic utility of WES. Early implementation of genomic testing can facilitate accurate diagnosis, guide clinical management, and improve genetic counseling in affected individuals.

The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (DSM-5-TR) defines obsessions in obsessive-compulsive disorder (OCD) as recurrent thoughts, urges, or images that are intrusive, unwanted, and distressing. Because the manual does not include an explicit ego-dystonicity requirement, its definition risks conflating anxiety-driven intrusions with gratification-driven impulses. This ambiguity carries significant forensic implications. When violent ideation is emotionally gratifying, it may still be described as distressing or unwanted, in a practical sense. In such cases, it may be misclassified as obsessional, potentially mitigating culpability or distorting assessments of intent and risk. Using the cases of William Heirens and Robert Cameron Houston, this article illustrates how DSM language can blur the boundary between true obsessional phenomena, experienced as alien, morally incongruent, and resisted, and ego-syntonic violent ideation that is volitional, reinforcing, and aligned with behavior. Tracing this vulnerability to the DSM's historical shift from psychodynamic to descriptive nosology, the paper argues that diagnostic precision must be grounded in phenomenological meaning rather than in surface description. In forensic contexts, this distinction safeguards determinations of intent, volition, and responsibility. Clarifying that obsessions are, by definition, ego-dystonic would preserve the conceptual integrity of OCD, prevent its misuse in court, and support the ethical and evidentiary coherence of psychiatric testimony.

L-2-hydroxyglutaric aciduria (L2HGA) is a rare, slowly progressive, autosomal recessive neurometabolic disorder caused by mutations in the L2HGDH gene and characterized by psychomotor developmental delay, cognitive impairment, epilepsy, dystonia, cerebellar ataxia, tremor, dysarthria, pyramidal signs, macrocephaly, leukoencephalopathy, and elevated L-2-hydroxyglutaric acid levels. To date, no case has been reported of a patient with L2HGA caused by the c.905C>T variant in L2HGDH presenting with epilepsy, tetraspasticity, tetraataxia, dysarthria, and dysmorphism, but without cognitive impairment or gait disturbance. The patient is a 22-year-old man from Syria with L2HGA, born to consanguineous parents, who presented with rare generalized seizures, mild tetraspasticity, tetraataxia, dysarthria, facial dysmorphism, and unilateral cryptorchism. His psychomotor development was normal. Cerebral MRI at the age of 18 revealed marked leukoencephalopathy, but no atrophy or involvement of the basal ganglia. Surprisingly, he showed no cognitive impairment, gait disturbances, or macrocephaly. He led an independent life as a mechanic and drove his own car. This case broadens the phenotypic spectrum of L2HGA and demonstrates that the c.905C>T variant in the L2HGDH gene can manifest phenotypically with only mild symptoms and without cognitive deficits or gait abnormalities. It also shows that some of these features may not be present in childhood but may develop only during adolescence or adulthood.