The monoamine neurotransmitter disorders: an expanding range of neurological syndromes
Summary The monoamine neurotransmitter disorders consist of a rapidly expanding heterogeneous group of neurological syndromes characterised by primary and secondary defects in the biosynthesis degradation, or transport of dopamine, norepinephrine, epinephrine, and serotonin. Disease onset can occur...
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| Published in | Lancet neurology Vol. 10; no. 8; pp. 721 - 733 |
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| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Elsevier Ltd
01.08.2011
Elsevier Limited |
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| Online Access | Get full text |
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| Abstract | Summary The monoamine neurotransmitter disorders consist of a rapidly expanding heterogeneous group of neurological syndromes characterised by primary and secondary defects in the biosynthesis degradation, or transport of dopamine, norepinephrine, epinephrine, and serotonin. Disease onset can occur any time from infancy onwards. Clinical presentation depends on the pattern and severity of neurotransmitter abnormalities, and is predominated by neurological features (encephalopathy, epilepsy, and pyramidal and extrapyramidal motor disorders) that are primarily attributed to deficiency of cerebral dopamine, serotonin, or both. Many neurotransmitter disorders mimic the phenotype of other neurological disorders (eg, cerebral palsy, hypoxic ischaemic encephalopathy, paroxysmal disorders, inherited metabolic diseases, and genetic dystonic or parkinsonian syndromes) and are, therefore, frequently misdiagnosed. Early clinical suspicion and appropriate investigations, including analysis of neurotransmitters in CSF, are essential for accurate clinical diagnosis. Treatment strategies focus on the correction of monoamine deficiency by replacement of monoamine precursors, the use of monoamine analogues, inhibition of monoamine degradation, and addition of enzyme cofactors to promote monoamine production. |
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| AbstractList | The monoamine neurotransmitter disorders consist of a rapidly expanding heterogeneous group of neurological syndromes characterised by primary and secondary defects in the biosynthesis degradation, or transport of dopamine, norepinephrine, epinephrine, and serotonin. Disease onset can occur any time from infancy onwards. Clinical presentation depends on the pattern and severity of neurotransmitter abnormalities, and is predominated by neurological features (encephalopathy, epilepsy, and pyramidal and extrapyramidal motor disorders) that are primarily attributed to deficiency of cerebral dopamine, serotonin, or both. Many neurotransmitter disorders mimic the phenotype of other neurological disorders (eg, cerebral palsy, hypoxic ischaemic encephalopathy, paroxysmal disorders, inherited metabolic diseases, and genetic dystonic or parkinsonian syndromes) and are, therefore, frequently misdiagnosed. Early clinical suspicion and appropriate investigations, including analysis of neurotransmitters in CSF, are essential for accurate clinical diagnosis. Treatment strategies focus on the correction of monoamine deficiency by replacement of monoamine precursors, the use of monoamine analogues, inhibition of monoamine degradation, and addition of enzyme cofactors to promote monoamine production. Summary The monoamine neurotransmitter disorders consist of a rapidly expanding heterogeneous group of neurological syndromes characterised by primary and secondary defects in the biosynthesis degradation, or transport of dopamine, norepinephrine, epinephrine, and serotonin. Disease onset can occur any time from infancy onwards. Clinical presentation depends on the pattern and severity of neurotransmitter abnormalities, and is predominated by neurological features (encephalopathy, epilepsy, and pyramidal and extrapyramidal motor disorders) that are primarily attributed to deficiency of cerebral dopamine, serotonin, or both. Many neurotransmitter disorders mimic the phenotype of other neurological disorders (eg, cerebral palsy, hypoxic ischaemic encephalopathy, paroxysmal disorders, inherited metabolic diseases, and genetic dystonic or parkinsonian syndromes) and are, therefore, frequently misdiagnosed. Early clinical suspicion and appropriate investigations, including analysis of neurotransmitters in CSF, are essential for accurate clinical diagnosis. Treatment strategies focus on the correction of monoamine deficiency by replacement of monoamine precursors, the use of monoamine analogues, inhibition of monoamine degradation, and addition of enzyme cofactors to promote monoamine production. |
| Author | Heales, Simon JR, Prof Gissen, Paul, PhD Clayton, Peter T, Prof Smith, Martin, PhD Kurian, Manju A, Dr |
| Author_xml | – sequence: 1 fullname: Kurian, Manju A, Dr – sequence: 2 fullname: Gissen, Paul, PhD – sequence: 3 fullname: Smith, Martin, PhD – sequence: 4 fullname: Heales, Simon JR, Prof – sequence: 5 fullname: Clayton, Peter T, Prof |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/21777827$$D View this record in MEDLINE/PubMed |
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| SubjectTerms | Animals Basal ganglia Biogenic Monoamines - metabolism Biomarkers - metabolism Biosynthesis Central nervous system diseases Cerebrospinal fluid Cofactors Dopamine Dopamine transporter Dystonia Encephalopathy Enzymes Epilepsy Epinephrine Humans Hypoxia Metabolic disorders Metabolism Metabolites monoamines Movement disorders Nervous System Diseases - diagnosis Nervous System Diseases - metabolism Neurological diseases Neurological disorders Neurology Neurotransmitter Agents - metabolism Neurotransmitters Norepinephrine Paralysis Parkinson's disease Physiology Serotonin Syndrome |
| Title | The monoamine neurotransmitter disorders: an expanding range of neurological syndromes |
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