Digenic inheritance of WARS2 and CHRNA6 mutations in infantile parkinsonism
Objective: To provide evidence of digenic inheritance in infantile parkinsonism. Background: Oligogenic inheritance has been demonstrated in PD[1],where patients with a primary genetic cause can…High amplitude jerky tremor in developmental dopamine deficiency
Objective: To describe the phenomenology of tremor in infantile parkinsonism due to dopamine deficiency. Background: Parkinsonism in childhood is usually caused by genetic abnormality, including…VIT-D and Tics Movement Disorder
Objective: Tics is common childhood movement disorder, with classified variants , typically begin at around 4-5 years of age but often present lator at about…Novel mutations identified in dopamine transporter deficiency syndrome
Objective: We aim to describe clinical phenotype, genotype and functional studies in a new cohort patients identified with Dopamine Transporter deficiency syndrome (DTDS). Background: Dopamine…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.