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…No deleterious effect of unilateral Gamma Knife thalamotomy on gait and posture in patients with essential tremor
Objective: We aimed to describe specific features of gait disorders and postural instability in patients with severe essential tremor (ET), and to evaluate the effect…Deep brain stimulation outcomes for primary and secondary dystonia
Objective: To describe clinical outcomes of pallidal stimulation in different types of dystonia, both primary and secondary and long-term results. Background: Many studies have previously…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.