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What is new for monoamine neurotransmitter disorders?

  • ICIEM Symposium 2013
  • Published:
Journal of Inherited Metabolic Disease

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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Authors and Affiliations

  1. Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

    Clara Marecos, Joanne Ng & Manju A. Kurian

  2. Developmental Neurosciences, UCL-Institute of Child Health, Room 111 Level 1 CMGU, Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK

    Joanne Ng & Manju A. Kurian

Authors
  1. Clara Marecos
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  2. Joanne Ng
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  3. Manju A. Kurian
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Correspondence to Manju A. Kurian.

Additional information

Communicated by: Nenad Blau

Clara Marecos, Joanne Ng and Manju A Kurian all significantly contributed to the planning, conduct and reporting of the work described in this article.

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Marecos, C., Ng, J. & Kurian, M.A. What is new for monoamine neurotransmitter disorders?. J Inherit Metab Dis 37, 619–626 (2014). https://doi.org/10.1007/s10545-014-9697-4

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  • DOI: https://doi.org/10.1007/s10545-014-9697-4

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