Improvement of movement disorder and neurodevelopment under selegiline in a CLTC deficient patient
Objective: We report the significative improvement on both movement disorder and neurodevelopment in a 5-year-old CLTC deficient patient treated with selegiline. Background: In 2019 we described a 30-year-old woman…Combined Plantar Stimulations Using a Novel Parkinson Shoe benefit Parkinson’s Disease Patients with Unresponsive Freezing of Gait
Objective: To explore the effect of combined vibratory and pressure stimulations in PD patients with unresponsive FOG and develop the innovative PD shoe. Background: Freezing…Prognostic Modeling of Parkinson’s Disease Progression Using Early Longitudinal Patterns of Change
Objective: To develop a prognostic model using multiple longitudinal measures to predict temporal clinical progression in early PD. Background: Predicting time to Parkinson’s disease (PD)…Parkinsonism in individuals with genetic neurodevelopmental disorders: A systematic review
Objective: It is increasingly recognized that individuals with genetic neurodevelopmental disorders (GNDs) such as 22q11.2 deletion syndrome can suffer from parkinsonism. We aim to provide…DAT-IQ improves power to detect longitudinal change in DaT deficit in SURE-PD3
Objective: DATIQ has been developed as a novel analytical approach to improve the sensitivity and statistical efficiency of dopamine transporter (DaT) SPECT quantification over previously…Freezing of gait in Parkinson’s disease: A 4-item FOG-Quick questionnaire assessment
Objective: To translate and validate a Thai language version of the FOG-Q. In addition, to develop a short-version 4-item question or FOG-Quick questionnaire was developed.…Early life stress offers a window into the relationship between depression and Parkinson’s disease: A 60-week study after maternal separation in rats
Objective: The aim of this study was to examine the relationship between depression and Parkinson's disease (PD) using the rat model of maternal separation (MS).…The Personalized Parkinson Project – data quality enhancing strategies
Objective: Demonstrate the impact of quality enhancing strategies in the Personalized Parkinson Project. Background: Increasingly, the scientific community uses data from longitudinal observational patient cohorts…Clinical outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency (PTPSd)
Objective: To assess morbility and clinical outcome of patients affected by defect of tetrahydrobiopterin (BH4) synthesis due to PTPSd. Background: PTPSd is a treatable genetic disorder…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:…
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