POLR3A Leukodystrophy presenting with levodopa responsive parkinsonism
Objective: This is a case of a 51-year-old lady with POLR3A related leukodystrophy and secondary dopa responsive parkinsonism. Background: Neurologic symptoms began 15 years ago…Botulinum Toxin dose optimization in pediatric DYT1 type Focal Hand Dystonia and tremor
Objective: We diagnosed a rare pediatric case of genetic focal hand dystonia (FHD) with dystonic tremor and optimized Onabotulinum Toxin A injection treatment dosing. Background:…A translational approach to determine target concentrations of MIN-102 (leriglitazone) to support a Phase II study in Friedreich’s ataxia
Objective: To determine efficacious plasma concentration of leriglitazone from preclinical models of Friedreich´s ataxia (FRDA). To confirm CNS target engagement in a first-in human study.…KMT2B-related dystonia (DYT28) and Klippel-Feil Syndrome: A new association?
Objective: To report the association of lysine-specific histone-methyltransferase 2B gene (KMT2B)-related dystonia (DYT28) and Klippel-Feil Syndrome (KFS). Background: Dystonia is a hyperkinetic movement disorder characterized…Sensory Trick in Oromandibular and Tongue Dystonia in Patient with Wilson’s Disease
Objective: The aim of the case report is to demonstrate an unusual clinical feature of secondary dystonia. Background: A sensory trick (ST) is a voluntarily…Recessive CWF19L1 mutations in a family with dystonia-ataxia syndrome
Objective: To enrich the limited clinical and genetic data of an extremely rare recessive ataxia subtype. Background: Advances in NGS techniques led to an increase…Long-term course and confounding factors of MDS-UPDRS in a longitudinal single-center (DeNoPa) and a multicenter cohort (PPMI)
Objective: To systematically compare long-term course of Parkinson's disease (PD) by the MDS-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and investigate possible predictive parameters of different…Quantitative extremity movement measurement
Objective: To demonstrate the feasibility of a simple low-cost procedure to quantitatively measure movements in the extremities of people with Parkinson's disease and other movement…Clinical Dementia Rating Scale Sum of Boxes (CDR-SOB) in Parkinson’s Disease: Longitudinal Results
Objective: To assess the change over time (1-2 years) on the Clinical Dementia Rating Sum of Boxes (CDR-SOB) in Parkinson's disease (PD). Background: The CDR-SOB…Measure of Social Relation in Huntington’s Disease: The Relationship Self-Questionnaire (RSQ)
Objective: Development and validation of the Relationship Self-Questionnaire (RSQ), specific to Huntington’s disease (HD), which aims tomeasurepatients self-perceived quality of their relationships (RS). Background: In…
- « Previous Page
- 1
- …
- 672
- 673
- 674
- 675
- 676
- …
- 1554
- Next Page »