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The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 adult individuals with SSADHD from the patient registry of the International Working Group on Neurotransmitter related Disorders (iNTD) were studied [...]

By |2024-05-17T12:04:04+01:00May 17th, 2024|

Neurotransmitters… it is all about communication!

JIMD Special Issue Communication was also the main goal of the conference “Rare-neurotransmitter-related diseases—Research to treatment (RNTD-R2T)” which took place in the city of Belgrade, Serbia, with 184 participants from 24 countries. With funding from the European Joint Programme Rare Diseases (EJPRD) and with the aim of fostering involvement of and exchange between all stakeholders, [...]

By |2024-05-17T11:53:21+01:00May 17th, 2024|

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 adult individuals with SSADHD from the patient registry of the International Working Group on Neurotransmitter related Disorders (iNTD) were studied [...]

By |2024-04-10T12:12:44+01:00April 10th, 2024|

Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism

Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition of prolactin secretion. This work from the International Working Group on Neurotransmitter Related Disorders (iNTD) presents the results of the first standardized study on levodopa-refractory hyperprolactinemia (LRHP; >1000 mU/L) and pituitary magnetic resonance imaging (MRI) abnormalities in [...]

By |2024-04-10T12:26:39+01:00July 15th, 2023|

Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up

The autosomal recessive defect of aromatic L-amino acid decarboxylase (AADC) leads to a severe neurological disorder with manifestation in infancy due to a pronounced, combined deficiency of dopamine, serotonin and catecholamines. The success of conventional drug treatment is very limited, especially in patients with a severe phenotype. The development of an intracerebral AAV2-based gene delivery [...]

By |2024-04-10T12:31:42+01:00July 5th, 2023|

Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders

Purpose: Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers. We aim to describe cerebral volumetric findings in a group of Spanish patients with neurotransmitter disorders. Methods: Fifteen 3D T1-weighted brain images from the International Working Group on [...]

By |2024-04-10T12:45:40+01:00November 30th, 2022|

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia

Objective Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inherited neurometabolic disorder with variable clinical course and severity, ranging from infantile epileptic encephalopathy to psychiatric disorders. A precise phenotypic characterization and an evaluation of predictive approaches are needed. Methods Longitudinal clinical and biochemical data of 25 individuals with NKH from the patient registry [...]

By |2024-04-10T12:38:31+01:00May 26th, 2022|

Master´s program “NEUROMETABOLISMAND CELL BIOLOGY FOR CLINICIANS”

Online master´s program "EUROMETABOLISMAND CELL BIOLOGY FOR CLINICIANS" with 2 on-site summer schools. The 2 years program is conducted by the University of Barcelona and the Hospital Sant Juan de Déu and will start in October 2022. Contact: Dr. Juliana Ribeiro (juliana.ribeiro@sjd.es)   Detailed information can be found here: Master-in-NEUROMETABOLISM-AND-CELL-BIOLOGY-FOR-CLINICIANS.pdf (iicn.ie)

By |2022-08-11T09:05:17+01:00May 23rd, 2022|

Conference on rare neurotransmitter diseases

Conference on rare neurotransmitter diseases in Belgrade The conference on rare neurotransmitter diseases will take part from 29th of September till 1st of October 2022 both in presence in Belgrade/Serbia and online. “Rare neurotransmitter diseases: from novel research to focused treatments through iNTD network strengthening and patient empowerment” aims to [...]

By |2022-05-23T10:38:58+01:00February 15th, 2022|

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|
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