Title |
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
|
---|---|
Published in |
Journal of Inherited Metabolic Disease, August 2018
|
DOI | 10.1007/s10545-018-0227-7 |
Pubmed ID | |
Authors |
A. Papandreou, S. Rahman, C. Fratter, J. Ng, E. Meyer, L. J. Carr, M. Champion, A. Clarke, P. Gissen, C. Hemingway, N. Hussain, S. Jayawant, M. D. King, B. J. Lynch, L. Mewasingh, J. Patel, P. Prabhakar, V. Neergheen, S. Pope, S. J. R. Heales, J. Poulton, Manju A. Kurian |
Abstract |
To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease. 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. 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. 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 2 | 29% |
United States | 1 | 14% |
Unknown | 4 | 57% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 5 | 71% |
Science communicators (journalists, bloggers, editors) | 1 | 14% |
Practitioners (doctors, other healthcare professionals) | 1 | 14% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 31 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 5 | 16% |
Student > Bachelor | 4 | 13% |
Other | 4 | 13% |
Student > Master | 3 | 10% |
Student > Doctoral Student | 2 | 6% |
Other | 5 | 16% |
Unknown | 8 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 7 | 23% |
Neuroscience | 5 | 16% |
Biochemistry, Genetics and Molecular Biology | 2 | 6% |
Business, Management and Accounting | 2 | 6% |
Arts and Humanities | 1 | 3% |
Other | 1 | 3% |
Unknown | 13 | 42% |