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What is new for monoamine neurotransmitter disorders?
Marecos, Clara; Ng, Joanne; Kurian, Manju A.
Afiliación
  • Marecos C; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
J Inherit Metab Dis ; 37(4): 619-26, 2014 Jul.
Article en En | MEDLINE | ID: mdl-24696406
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Monoaminas Biogénicas / Neurotransmisores / Encefalopatías Metabólicas Innatas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2014 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Monoaminas Biogénicas / Neurotransmisores / Encefalopatías Metabólicas Innatas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2014 Tipo del documento: Article