Explosive flurry of seizures and new-onset cortical-subcortical lesions in a patient with Wilson disease
Objective: We report a patient with stable neurological Wilson disease (WD) who developed repeated seizures and new-onset cortical-subcortical lesions, and discuss the possible causes for…Dystonia ataxia (DYTCA) syndrome with prominent handwriting deterioration associated with ADCK3 mutation: two new cases and an overview of the literature
Objective: To report two new patients with ADCK3 mutation presenting with writing deterioration as first sign of DYTCA syndrome. To provide an overview of clinical…Patient and Caregiver Experience With Pantothenate Kinase-Associated Neurodegeneration
Objective: To investigate the natural history of pantothenate kinase-associated neurodegeneration (PKAN) and the burden of illness. Background: PKAN is a rare autosomal recessive, progressive neurodegenerative…An early-onset parkinsonism revealing a Gaucher disease with a heterozygous mutation in GBA gene: A case report
Objective: To report a case of a late-onset Gaucher disease (GD) revealed by an atypical Parkinson disease. Background: GD is an autosomal recessive lysosomal disorder,…Chitotriosidase is a biomarker for Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP)
Objective: ALSP belongs to the large group of rare neurogenetic, adult-onset leukodystrophies. For most of these leukodystrophies, including ALSP, no causative treatment exists. Biomarkers facilitate…Quantitative oculomotor assessment and non-motor biomarkers in late-onset GM2 gangliosidosis
Objective: To assess whether quantitative eye movement measures correlate with disease severity in late-onset GM2 gangliosidosis, and to perform exploratory assessments of novel cognitive/neuropsychiatric measures…A novel homozygous splice site mutation in the KIF1C gene (SPAX2, SPG58) found in a consanguineous turkish family
Objective: We present clinical, electrophysiological and genomic data of a consanguineous family with two affected siblings suffering from spasticity and severe ataxia. Background: Mutations in…From Non-rechargeable to Rechargeable Technology: Insights and Management of Pallidal Deep Brain Stimulation in Dystonia after Switching to a Rechargeable Implantable Pulse Generator
Objective: Here, we aimed to evaluate the management of stimulation intensities after switching from NRC to RC IPG compared to previous RC-to-RC replacements. Background: Patients…Improvement in chorea and function in a patient with dystonia-choreoathetosis cerebral palsy after treatment with bilateral pallidal deep brain stimulation
Objective: We describe and demonstrate by video a patient with dystonia-choreoathetosis cerebral palsy treated with bilateral pallidal deep brain stimulation (DBS). Background: Dystonia-choreoathetosis cerebral palsy…Bilateral subthalamic deep brain stimulation combined with thalamotomy for PRRT2-associated generalized dystonia: A case report
Objective: To investigate the efficacy of deep brain stimulation (DBS) and thalamotomy on symptoms improvement in a case of PRRT2-associated childhood-onset generalized dystonia. This would…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.