Motor Onset of Parkinson’s disease: the proximal limbs are first
Objective: To determine if proximal body parts are more affected than distal body parts at the clinical onset of Parkinson’s disease (PD). Background: Motor features…Mixed Cerebellar Ataxia in a Patient with a Novel FAT2 Gene Variant Associated with SCA45
Objective: We describe a patient with late-onset ataxia, cognitive impairment, and parkinsonism with a novel missense variant in FAT2, a gene implicated in spinocerebellar ataxia…Spinocerebellar Ataxia Type 4: a Novel Polyglycine Disease caused by GGC Repeat Expansion in ZFHX3.
Objective: Identification of the mutation causing SCA4. Background: SCA4 is an autosomal dominant disease, originally described in a large Utah pedigree, characterized by sensory and…CAPRIN1 defect: a new severe neurodegenerative disorder with childhood dementia, myoclonus-ataxia, and sensorimotor neuropathy
Objective: To present the case of a patient with a severe neurodegenerative disorder with onset in pediatric age carrying a pathogenic variant in CAPRIN1 gene…Progressive cerebellar ataxia in primary Sjögren’s syndrome: a case report
Objective: To present a rare case of gradually progressing cerebellar ataxia due to systemic autoimmune disease. Background: Primary Sjögren’s syndrome (pSS) is an autoimmune disease,…A Rare Case of Hemicorea Secondary to Giant Perivascular Space: A Case Report
Objective: To describe a rare cause of unilateral chorea caused by a structural lesion with few descriptions in literature. Background: While chorea typically manifests in…The Impact of Standardized Recommendations on the Management of Initial and Refractory Pediatric Status Dystonicus
Objective: To develop consensus recommendations for the assessment, triaging and management of pre-status dystonicus, status dystonicus, and refractory status dystonicus in children. Background: Status dystonicus…Dystonia and Impact on Employment in a Spanish Cohort
Objective: To evaluate the effect of age at diagnosis, impact on social and family life, and complications of dystonia (such as inability to communicate correctly…Phenotypic Variability in Combined Parkinsonism-Dystonia and Isolated Idiopathic Dystonia
Objective: To analyze the demographic and clinical differences between patients with combined parkinsonism-dystonia and those with isolated idiopathic dystonia. Background: The current dystonia classification system…Increased cerebellar grey matter in writer’s cramp patients: a morphometric signature of symptom compensation
Objective: This study focused on grey matter changes in the cerebellum by performing voxel-based morphometry (VBM) on infratentorial MRI scans of writers' cramp (WC) patients,…
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