Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity Background: Genetic defects of monoamine neurotransmitters are rare neurological diseases amenable to treatment with variable response. They are major causes of early parkinsonism and other spectrum of movement disorders including dopa-responsive dystonia. Objectives: The objective of this [...]
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience Objective: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited autosomal recessive disorder of biogenic amine metabolism. Diagnosis requires analysis of neurotransmitter metabolites in cerebrospinal fluid, AADC [...]
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement disorders to early infantile severe encephalopathy. Neuroimaging has been reported as non-specific. We systematically analyzed [...]
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors [...]
Rare neurotransmitter diseases: from novel research to focused treatments through iNTD network strengthening and patient empowerment Save the Date: 29th September - 01st October 2022 We are pleased to announce that the conference on rare neurotransmitter diseases will take place on 29th September - 01st October [...]
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and [...]
Inborn errors of (synaptic) neurotransmission After last year's APS Annual Meeting had to be cancelled at short notice due to the Covid.Pandemic and planning was also difficult in 2021, it is now a special pleasure for us to invite you to the APS Annual Meeting in [...]
8th iNTD network meeting 2020 Online We are happy to announce, that the 8th iNTD network meeting will be held on October 1st 2020 from 3 pm - 5:30 pm. Due to the ongoing pandemic, this year's meeting will be held online. A link for the [...]
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients Aromatic L‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to a complex syndrome of motor, behavioral, [...]
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the [...]
