Movement Disorders In Children With Monoamine Neurotransmitter Disorders
Objective: To describe clinical, para-clinical, therapeutic and evolutionary characteristics of movement disorders (MD) and oculogyric crises (OC) in children with monoamine neurotransmitter disorders (MND) Background:…New wearable technology for quantification of freezing of gait in school going adolescent with pediatric movement disorders
Objective: To study quantification of freezing of gait (FOG) and falls of patients data in school going adolescent with pediatric movement disorders by wearable device…A clinical case of subdural hematoma caused by a tic-like head banging in a patient with neurodevelopmental disorder
Objective: To describe a case of subdural hematoma caused by a tic-like head banging. Background: Subdural hematoma is a medical condition that occurs when blood…DNAJC12 defect a new neurodevelopmental disorder associated with parkinsonism-dystonia
Objective: to expand the phenotypic characterization of this rare disorder, clinical presentation and outcome of a cohort of patients affected DNAJC12 defect are reported. Background:…Neurophysiological Assessment of Juvenile Parkinsonism due to Primary Monoamine Neurotransmitters Disorders
Objective: No previous studies investigated voluntary movements abnormalities and their neurophysiological correlates in primary monoamine neurotransmitters (NT) disorders. Background: Juvenile parkinsonism is a rare condition…Recent Clinical variation of Segawa Disease in Japan
Objective: To analyze clinical phenotype of recent variation of Segawa disease（GCHⅠ deficiency, DYT5a）in Japan. Background: Segawa Disease（SD）is major dystonia in children found by Prof.Masaya Segawa…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…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…Clinical outcome in early-treated Sepiapterine Reductase Deficiency (SRD): A case report
Objective: To report the outcome of a 6.3-year-old girl with SRD diagnosed and treated since the fifth month of life. Background: Sepiapterin reductase deficiency (SRD)…Restoring AADC enzyme synthesis in AADC deficiency: MRI-Guided Delivery of AAV2-hAADC Gene Therapy to the Midbrain
Objective: Evaluate the safety and efficacy of real-time MR-guided delivery of adeno-associated virus serotype 2 (AAV2)-hAADC delivery to the SNc and VTA for the treatment…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.