The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

. 2016 Dec ; 9 () : 61-66. [epub] 20161020

Status PubMed-not-MEDLINE Jazyk angličtina Země Spojené státy americké Médium electronic-ecollection

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/pmid27830117
Odkazy

PubMed 27830117
PubMed Central PMC5094101
DOI 10.1016/j.ymgmr.2016.09.006
PII: S2214-4269(16)30088-X
Knihovny.cz E-zdroje

INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases resulting in neurological impairment at any age from newborn to adulthood. METHODS AND RESULTS: The International Working Group on Neurotransmitter related Disorders (iNTD) is the first international network focusing on the study of primary and secondary neurotransmitter disorders. It was founded with the aim to foster exchange and improve knowledge in the field of these rare diseases. The newly established iNTD patient registry for neurotransmitter related diseases collects longitudinal data on the natural disease course, approach to diagnosis, therapeutic strategies, and quality of life of affected patients. The registry forms the evidence base for the development of consensus guidelines for patients with neurotransmitter related disorders. CONCLUSION: The iNTD network and registry will improve knowledge and strengthen research capacities in the field of inborn neurotransmitter disorders. The evidence-based guidelines will facilitate standardized diagnostic procedures and treatment approaches.

Zobrazit více v PubMed

Blau N., van Spronsen F.J. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism. In: Blau N., Duran M., KM G., Dionisi-Vici C., editors. Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases Heidelberg. Springer; 2014. pp. 3–21.

Brimley C.J., Lopez J., van Haren K. National variation in costs and mortality for leukodystrophy patients in US children's hospitals. Pediatr. Neurol. 2013;49(156–162) PubMed PMC

Brun L., Ngu L.H., Keng W.T. Clinical and biochemical features of aromatic l-amino acid decarboxylase deficiency. Neurology. 2010;75:64–71. PubMed

Byers H.M., Bennett R.L., Malouf E.A. JIMD Reports. 2015. Novel report of phosphoserine phosphatase deficiency in an adult with myeloneuropathy and limb contractures. PubMed PMC

Cario H., Bode H., Debatin K.M., Opladen T., Schwarz K. Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment. Neurology. 2009;73:2127–2129. PubMed

Cario H., Smith D.E., Blom H. Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. Am. J. Hum. Genet. 2011;88:226–231. PubMed PMC

Dinopoulos A., Matsubara Y., Kure S. Atypical variants of nonketotic hyperglycinemia. Mol. Genet. Metab. 2005;86:61–69. PubMed

El-Hattab A.W. Serine biosynthesis and transport defects. Mol. Genet. Metab. 2016;118:153–159. PubMed

Friedman J., Roze E., Abdenur J.E. Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann. Neurol. 2012;71:520–530. PubMed

Gibson K.M., Christensen E., Jakobs C. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics. 1997;99:567–574. PubMed

Gibson K.M., Gupta M., Pearl P.L. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria) Biol. Psychiatry. 2003;54:763–768. PubMed

Hennermann J.B., Berger J.M., Grieben U., Scharer G., Van Hove J.L. Prediction of long-term outcome in glycine encephalopathy: a clinical survey. J. Inherit. Metab. Dis. 2012;35:253–261. PubMed

Hyman S.E. Neurotransmitters. Curr. Biol. 2005;15:R154–R158. PubMed

Jaeken J., Casaer P., de Cock P. Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. Neuropediatrics. 1984;15:165–169. PubMed

Jaeken J., Detheux M., Fryns J.P., Collet J.F., Alliet P., Van Schaftingen E. Phosphoserine phosphatase deficiency in a patient with Williams syndrome. J. Med. Genet. 1997;34:594–596. PubMed PMC

Kurian M.A., Zhen J., Cheng S.Y. Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. J. Clin. Invest. 2009;119:1595–1603. PubMed PMC

Lopez-Bastida J., Perestelo-Perez L., Monton-Alvarez F., Serrano-Aguilar P. Social economic costs and health-related quality of life in patients with degenerative cerebellar ataxia in Spain. Mov. Disord. 2008;23:212–217. PubMed

Opladen T., Hoffmann G.F. Neurotransmitter disorders. In: Blau N., Duran M., KM G., Dionisi-Vici C., editors. Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. Springer; Berlin Heidelberg: 2014. pp. 515–528.

Opladen T., Hoffmann G.F., Blau N. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J. Inherit. Metab. Dis. 2012;35:963–973. PubMed

Pan L., McKain B.W., Madan-Khetarpal S. BMJ Case Reports 2011. 2011. GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour. PubMed PMC

Pearl P.L., Capp P.K., Novotny E.J., Gibson K.M. Inherited disorders of neurotransmitters in children and adults. Clin. Biochem. 2005;38:1051–1058. PubMed

Pearl P.L., Gibson K.M., Cortez M.A. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J. Inherit. Metab. Dis. 2009;32:343–352. PubMed PMC

Rilstone J.J., Alkhater R.A., Minassian B.A. Brain dopamine-serotonin vesicular transport disease and its treatment. N. Engl. J. Med. 2013;368:543–550. PubMed

Steinfeld R., Grapp M., Kraetzner R. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am. J. Hum. Genet. 2009;85:354–363. PubMed PMC

Tadic V., Kasten M., Bruggemann N., Stiller S., Hagenah J., Klein C. Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and Nonmotor signs. Arch. Neurol. 2012:1–5. PubMed

Tsuji M., Aida N., Obata T. A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. J. Inherit. Metab. Dis. 2010;33:85–90. PubMed PMC

Werner E.R., Blau N., Thony B. Tetrahydrobiopterin: biochemistry and pathophysiology. Biochem. J. 2011;438:397–414. PubMed

Willemsen M.A., Verbeek M.M., Kamsteeg E.J. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain. 2010;133:1810–1822. PubMed

Najít záznam

Citační ukazatele

Nahrávání dat ...

    Možnosti archivace