Autosomal Dominant DHDDS-Related Movement Disorder Treated with Primidone
Objective: To describe novel clinical features and treatment response in a patient with neurodevelopmental disorder due to variants in dehydrodolichol diphosphate synthetase (DHDDS). Background: DHDDS…Focal Lower Limb Myoclonus Heralding Adult Onset Fulminant SSPE
Objective: We report a case adult onset fulminant SSPE with focal lower limb myoclonus as the predominant presenting movement disorder. Background: Myoclonus remains a defining…Hallucinations as a Distinguishing Neuropsychiatric Feature in Idiopathic Rapid Eye Movement Sleep Behavior Disorder Patients
Objective: This study aimed to assess the severity of neuropsychiatric symptoms in individuals with idiopathic/isolated rapid eye movement (REM) sleep behavior disorder (iRBD) according to…Novel DCC Variant Identified to Cause Congenital Mirror Movements
Objective: To describe a case of lifelong motor incoordination, mirror movements, and possible dystonia caused by a novel likely pathogenic variant in the DCC gene.…Clinical and Genetic Profile of DYT-THAP1 in Asian Indian Patients
Objective: To describe the clinical and genetic profile of DYT-THAP1 in Asian Indian patients. Background: Variants in the thanatos-associated protein 1 (THAP1) gene are recognized…Undescribed Variant of the THAP1 Gene Likely Pathogenic Associated with DYT6 – Case Report
Objective: To describe a case of dystonia DYT6 in which a variant of uncertain significance (VUS) in the THAP1 gene was found, which is likely…A novel homozygous mutation in PANK2 gene mutation in a South- Asian male with typical PKAN
Objective: To study the clinical course, imaging and genetics in a case of early onset generalized dystonia with suspected Neurodegeneration with Brain Iron Accumulation (NBIA).…Deep Brain Stimulation in a Patient with Dystonia-Parkinsonism Secondary to a c.609G>A PLA2G6-Associated Neurodegeneration Variant
Objective: To describe a rare likely pathogenic variant of the PLA2G6 protein and its response to deep brain stimulation (DBS). Background: PLA2G6-associated neurodegeneration (PLAN) can…Role of the other babinski sign in hemifacial spasm
Objective: To investigate the role of the “Other Babinski Sign” in differentiating HFS from blepharospasm and to determine its prevalence in HFS patients. Background: The…Hemichorea as an Atypical Manifestation of Hypoglycemia: A Rare Case Report
Objective: To present a rare case of hemichorea as a neurological manifestation of hypoglycemia, highlighting the importance of considering metabolic factors in patients with movement…
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