Literature DB >> 24696406

What is new for monoamine neurotransmitter disorders?

Clara Marecos1, Joanne Ng, Manju A Kurian.   

Abstract

The monoamine neurotransmitter disorders are increasingly recognized as an expanding group of inherited neurometabolic syndromes caused by disturbances in the synthesis, transport and metabolism of the biogenic amines, including the catecholamines (dopamine, norepinephrine, and epinephrine) and serotonin. Disturbances in monoamine metabolism lead to neurological syndromes that frequently mimic other conditions, such as hypoxic ischemic encephalopathy, cerebral palsy, parkinsonism-dystonia syndromes, primary genetic dystonia and paroxysmal disorders. As a consequence, neurotransmitter disorders are frequently misdiagnosed. Early and accurate diagnosis of these neurotransmitter disorders is important, as many are highly amenable to, and some even cured by, therapeutic intervention. In this review, we highlight recent advances in the field, particularly the recent extensive characterization of known neurotransmitter disorders and identification of novel neurotransmitter disorders. We also provide an overview of current and future research in the field focused on developing novel treatment strategies.

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Year:  2014        PMID: 24696406     DOI: 10.1007/s10545-014-9697-4

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  43 in total

1.  Infantile parkinsonism-dystonia due to dopamine transporter gene mutations: another genetic twist.

Authors:  Craig Blackstone
Journal:  Lancet Neurol       Date:  2010-11-25       Impact factor: 44.182

2.  Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.

Authors:  Jennifer Friedman; Keith Hyland; Nenad Blau; Mia MacCollin
Journal:  Neurology       Date:  2006-12-12       Impact factor: 9.910

3.  What is the role of dopamine in childhood neurological disorders?

Authors:  Manju A Kurian
Journal:  Dev Med Child Neurol       Date:  2013-03-17       Impact factor: 5.449

4.  Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.

Authors:  B G R Neville; R Parascandalo; R Farrugia; A Felice
Journal:  Brain       Date:  2005-07-27       Impact factor: 13.501

5.  Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.

Authors:  Sandra Brasil; Hiu Man Viecelli; David Meili; Anahita Rassi; Lourdes R Desviat; Belen Pérez; Magdalena Ugarte; Beat Thöny
Journal:  Hum Mutat       Date:  2011-08-04       Impact factor: 4.878

Review 6.  Myoclonus.

Authors:  Alberto J Espay; Robert Chen
Journal:  Continuum (Minneap Minn)       Date:  2013-10

7.  Results from a phase I safety trial of hAADC gene therapy for Parkinson disease.

Authors:  J L Eberling; W J Jagust; C W Christine; P Starr; P Larson; K S Bankiewicz; M J Aminoff
Journal:  Neurology       Date:  2008-04-09       Impact factor: 9.910

8.  Brain dopamine-serotonin vesicular transport disease and its treatment.

Authors:  Jennifer J Rilstone; Reem A Alkhater; Berge A Minassian
Journal:  N Engl J Med       Date:  2013-01-30       Impact factor: 91.245

9.  Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.

Authors:  T Giovanniello; V Leuzzi; C Carducci; C Carducci; M L Di Sabato; C Artiola; S Santagata; S Pozzessere; I Antonozzi
Journal:  Neuropediatrics       Date:  2007-08       Impact factor: 1.947

10.  Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.

Authors:  Maria Stamelou; Niccolo E Mencacci; Carla Cordivari; Amit Batla; Nick W Wood; Henry Houlden; John Hardy; Kailash P Bhatia
Journal:  Neurology       Date:  2012-07-18       Impact factor: 9.910

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  11 in total

Review 1.  Monoamine neurotransmitter disorders--clinical advances and future perspectives.

Authors:  Joanne Ng; Apostolos Papandreou; Simon J Heales; Manju A Kurian
Journal:  Nat Rev Neurol       Date:  2015-09-22       Impact factor: 42.937

2.  Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

Authors:  Alice Kuster; Jean-Baptiste Arnoux; Magalie Barth; Delphine Lamireau; Nada Houcinat; Cyril Goizet; Bérénice Doray; Stéphanie Gobin; Manuel Schiff; Aline Cano; Daniel Amsallem; Christine Barnerias; Boris Chaumette; Marion Plaze; Abdelhamid Slama; Christine Ioos; Isabelle Desguerre; Anne-Sophie Lebre; Pascale de Lonlay; Laurence Christa
Journal:  J Inherit Metab Dis       Date:  2017-09-18       Impact factor: 4.982

3.  Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

Authors:  Marta Batllori; Marta Molero-Luis; Aida Ormazabal; Raquel Montero; Cristina Sierra; Antonia Ribes; Julio Montoya; Eduardo Ruiz-Pesini; Mar O'Callaghan; Leticia Pias; Andrés Nascimento; Francesc Palau; Judith Armstrong; Delia Yubero; Juan D Ortigoza-Escobar; Angels García-Cazorla; Rafael Artuch
Journal:  J Inherit Metab Dis       Date:  2018-07-04       Impact factor: 4.982

4.  L-menthol exhibits antidepressive-like effects mediated by the modification of 5-HTergic, GABAergic and DAergic systems.

Authors:  Weidong Wang; Yuanyuan Jiang; Enbo Cai; Bingchen Li; Yan Zhao; Hongyan Zhu; Lianxue Zhang; Yugang Gao
Journal:  Cogn Neurodyn       Date:  2018-12-11       Impact factor: 5.082

Review 5.  Synaptic metabolism: a new approach to inborn errors of neurotransmission.

Authors:  Alba Tristán-Noguero; Àngels García-Cazorla
Journal:  J Inherit Metab Dis       Date:  2018-07-16       Impact factor: 4.982

6.  ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Authors:  Dong-Hui Chen; Aurélie Méneret; Jennifer R Friedman; Olena Korvatska; Alona Gad; Emily S Bonkowski; Holly A Stessman; Diane Doummar; Cyril Mignot; Mathieu Anheim; Saunder Bernes; Marie Y Davis; Nathalie Damon-Perrière; Bertrand Degos; David Grabli; Domitille Gras; Fuki M Hisama; Katherine M Mackenzie; Phillip D Swanson; Christine Tranchant; Marie Vidailhet; Steven Winesett; Oriane Trouillard; Laura M Amendola; Michael O Dorschner; Michael Weiss; Evan E Eichler; Ali Torkamani; Emmanuel Roze; Thomas D Bird; Wendy H Raskind
Journal:  Neurology       Date:  2015-11-04       Impact factor: 9.910

7.  Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

Authors:  Jessie C Jacobsen; Callum Wilson; Vicki Cunningham; Emma Glamuzina; Debra O Prosser; Donald R Love; Trent Burgess; Juliet Taylor; Brendan Swan; Rosamund Hill; Stephen P Robertson; Russell G Snell; Klaus Lehnert
Journal:  J Inherit Metab Dis       Date:  2015-10-26       Impact factor: 4.982

8.  Mechanistic and structural analysis of Drosophila melanogaster arylalkylamine N-acetyltransferases.

Authors:  Daniel R Dempsey; Kristen A Jeffries; Jason D Bond; Anne-Marie Carpenter; Santiago Rodriguez-Ospina; Leonid Breydo; K Kenneth Caswell; David J Merkler
Journal:  Biochemistry       Date:  2014-12-01       Impact factor: 3.162

9.  Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.

Authors:  Maja Tarailo-Graovac; Gabriella A Horvath; Clara D van Karnebeek; Ingrid Blydt-Hansen; Allison M Matthews; Vladimir Avramovic; Magda Price; Britt Drogemoller; Casper Shyr; Jessica Lee; Jill Mwenifumbo; Aisha Ghani; Sylvia Stockler; Jan M Friedman; Anna Lehman; Colin J Ross; Wyeth W Wasserman
Journal:  Neurogenetics       Date:  2021-07-02       Impact factor: 2.660

10.  A Preliminary Study of DBH (Encoding Dopamine Beta-Hydroxylase) Genetic Variation and Neural Correlates of Emotional and Motivational Processing in Individuals With and Without Pathological Gambling.

Authors:  Bao-Zhu Yang; Iris M Balodis; Cheryl M Lacadie; Jiansong Xu; Marc N Potenza
Journal:  J Behav Addict       Date:  2016-05-19       Impact factor: 6.756

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