Mcleod syndrome: Systematic review with meta-analysis
Objective: Analyze, review and describe the pathognomonic or characteristic signs and symptoms of Mcleod syndrome. Background: Mcleod syndrome is caused due to a mutation of…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…Loss‐of‐function mutations in NR4A2 cause dopa‐responsive dystonia-parkinsonism
Objective: To report two patients with early-onset dystonia-parkinsonism as a result of loss-of-function mutations in nuclear receptor subfamily 4 group A member 2 (NR4A2). Background:…PNPLA6-related Disorder With Expanded Phenotype Including Parkinsonism, Dystonia, And Abnormal Dopamine Transporter Imaging
Objective: To present a case of PNPLA6-related disorder with an expanded phenotype. Background: PNPLA6-related are autosomal recessive disorders with heterogeneous clusters of cerebellar ataxia, upper…Psychosocial Adjustment to Illness Scale in family carers of patients with Parkinson’s disease: Spanish validation
Objective: To analyse the psychometric properties of the Spanish version of the Psychosocial Adjustment to Illness Scale (PAIS) in family carers of patients with Parkinson’s…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…Cognitive pretesting of the Functional Rating Scale 2.0 for Huntington’s disease (FuRST 2.0): An iterative process
Objective: Develop a functional rating scale for Huntington’s disease (HD) using iterative rounds of cognitive pretesting (CPT). Background: We previously reported on focus group and…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.