Precision Gene Therapy Results in Clinical Benefit and Developmental Gains in Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): The UK Experience
Objective: To describe the UK cohort of children who have received regional brain-targeted gene therapy (GT) for AADCd. Background: Classical AADCd is an ultra-rare genetic…Precision Gene Therapy Results in Clinical Benefit and Developmental Gains for Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): The UK Experience
Objective: To describe the UK cohort of children who have received regional brain-targeted gene therapy (GT) for AADCd Background: Classical AADCd is an ultra-rare genetic…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…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…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)…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.