| Summary: | <p><strong>Objectives</strong> To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with <em>POLG</em> disease.</p> <p><strong>Methods</strong> We identified children with genetically confirmed <em>POLG</em> 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‐<em>POLG</em> patients presenting with status epilepticus.</p> <p><strong>Results</strong> Forty‐one patients with <em>POLG</em> 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.</p> <p><strong>Conclusions</strong> Children with <em>POLG</em> 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.</p>
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