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Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
A Papandreou1,2,3, S Rahman4,5, C Fratter6
1Molecular Neurosciences, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London, WC1N 1EH, UK.
Insights
Pediatric POLG disease often presents with movement disorders. Cerebrospinal fluid (CSF) analysis reveals neurotransmitter abnormalities in most affected children, suggesting a role for monoamine metabolism.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Progressive external ophthalmoplegia (POLG) gene mutations are a common cause of mitochondrial disease in children.
- Movement disorders are a significant clinical manifestation in pediatric POLG disease, though their spectrum and underlying biochemical correlates are not fully characterized.
Purpose of the Study:
- To delineate the range of movement disorders observed in pediatric patients with POLG disease.
- To investigate cerebrospinal fluid (CSF) neurotransmitter profiles in these patients and correlate them with clinical presentation.
Main Methods:
- Retrospective analysis of clinical data from children with genetically confirmed POLG disease.
- CSF neurotransmitter levels were analyzed and compared to age-related reference ranges and non-POLG patient cohorts.
Main Results:
- Movement disorders were documented in nearly 50% of the 41 identified POLG patients, including myoclonus, choreoathetosis, and ataxia.
- CSF neurotransmitter abnormalities were detected in 87% of the 15 tested cases, with notable elevations in neopterin, homovanillic acid, and 5-hydroxyindoleacetic acid.
Conclusions:
- Pediatric POLG disease encompasses a broad spectrum of movement abnormalities.
- Aberrant monoamine metabolism, as indicated by CSF neurotransmitter profiles, likely contributes to the pathophysiology of POLG-related movement disorders.
Objectives:
To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease.
Methods:
We identified children with genetically confirmed POLG disease, in whom CSF neurotransmitter analysis had been undertaken. Clinical data were collected retrospectively. CSF neurotransmitter levels were compared to both standardised age-related reference ranges and to non-POLG patients presenting with status epilepticus.
Results:
Forty-one patients with POLG disease were identified. Almost 50% of the patients had documented evidence of a movement disorder, including non-epileptic myoclonus, choreoathetosis and ataxia. CSF neurotransmitter analysis was undertaken in 15 cases and abnormalities were seen in the majority (87%) of cases tested. In many patients, distinctive patterns were evident, including raised neopterin, homovanillic acid and 5-hydroxyindoleacetic acid levels.
Conclusions:
Children with POLG mutations can manifest with a wide spectrum of abnormal movements, which are often prominent features of the clinical syndrome. Underlying pathophysiology is probably multifactorial, and aberrant monoamine metabolism is likely to play a role.
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