Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity

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 [...]

By |2022-01-21T10:27:18+00:00January 21st, 2022|

Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience

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 [...]

By |2022-01-14T11:56:06+00:00January 14th, 2022|

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

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 [...]

By |2022-01-10T10:02:07+00:00January 10th, 2022|

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

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 [...]

By |2022-01-05T10:08:16+00:00January 5th, 2022|

Rare neurotransmitter diseases: from novel research to focused treatments through iNTD network strengthening and patient empowerment

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 [...]

By |2021-12-22T13:02:17+00:00December 7th, 2021|

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

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 [...]

By |2021-12-01T19:35:03+00:00December 1st, 2021|

APS Jahrestagung

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 [...]

By |2021-12-01T09:55:05+00:00June 17th, 2021|

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

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, [...]

By |2020-07-06T08:26:48+01:00July 6th, 2020|

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

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 [...]

By |2020-07-06T08:23:40+01:00July 6th, 2020|
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