Basal ganglia and cerebellum involvement in Myelin Oligodendrocyte antibody associated disease (MOGAD) presenting with facial Dystonia and limb Tremer
Objective: Movement disorder in MOGAD is rarely reported in literature. Here we report a case of female with facial dystonia and tremor a rare manifestation.…Expanding the clinical and genetic spectrum of SCA15: a rare case report
Objective: Spinocerebellar ataxia type 15 (SCA15) is a rare and understudied autosomal dominant cerebellar ataxia. The clinical and genetic characteristics of SCA15 are not well…Archimedes Spiral and Straight-Line Drawings as Digital Biomarkers in Cerebellar Ataxia: A Preliminary Study
Objective: To develop a computer vision-based pipeline for extraction of digital biomarkers from hand drawing tasks and to evaluate their correlation with clinical ataxia severity.…Stroke, Chronic Ataxia and Tremor in a Pediatric Patient with c.2137C>A Genetic Variant in CACNA1A
Objective: To describe a pediatric case of chronic non-progressive ataxia, nystagmus, kinetic tremor, refractory epilepsy, and arterial ischemic stroke (AIS) associated with a CACNA1A c.2137C>A…Clinical case of cerebellar ataxia associated with temporal bone tumor
Objective: To describe a clinical case of tumor-induced cerebellar ataxia in an elderly patient. Background: Ataxia can result from various etiologies, including neurodegenerative diseases, stroke,…Reversing the irreversible: The application of Deep Brain Stimulation in The Syndrome of Irreversible Lithium Effectuated Neurotoxicity.
Objective: To share an exciting case of effective treatment of Syndrome of Irreversible Lithium Effectuated Neurotoxicity (SILENT) after an inadvertent lithium overdose using Deep Brain…Assessment of Cerebellar Ataxia Severity in Patients with Posterior Cranial Fossa Tumors Using CASAS Scale
Objective: To develop a scale for assessing the severity of cerebellar ataxia in patients with PCFT Background: Cerebellar ataxia (CA) is prevalent in patients with…Expanding the Neurogenetic Spectrum: A Case of DEPDC5 Mutation Presenting with Unilateral Tremor and Cognitive Decline
Objective: Here, we report a novel presentation of DEPDC5-related disorders in a 41-year-old patient with unilateral tremors and delayed cognitive decline. Background: DEPDC5 mutations are…Human cerebellum contributes to the motor frequency coding for essential tremor and volitional rhythmic movements
Objective: Tremor and volitional rhythmic movement are frequency-specific motions. However, it remains unclear which area of the central nervous system can process frequency information. This…The phenotypic spectrum and assessment of severity in patients of Spinocerebellar Ataxia-12.
Objective: To describe clinical phenotype, manifestations, and assess tremor severity using standard rating scale in genetically confirmed patients with SCA12. Background: Spinocerebellar Ataxia-12 (SCA12) occurs…
