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Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
Author(s) -
Papandreou A.,
Rahman S.,
Fratter C.,
Ng J.,
Meyer E.,
Carr L. J.,
Champion M.,
Clarke A.,
Gissen P.,
Hemingway C.,
Hussain N.,
Jayawant S.,
King M. D.,
Lynch B. J.,
Mewasingh L.,
Patel J.,
Prabhakar P.,
Neergheen V.,
Pope S.,
Heales S. J. R.,
Poulton J.,
Kurian Manju A.
Publication year - 2018
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-018-0227-7
Subject(s) - homovanillic acid , movement disorders , medicine , neurotransmitter , choreoathetosis , disease , pathophysiology , spinocerebellar ataxia , ataxia , myoclonus , dystonia , endocrinology , psychiatry , central nervous system , serotonin , receptor
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.