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:…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:…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…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…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…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…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.