Article
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.
Journal of inherited metabolic disease - 1 Nov 2018
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
Abstract excerpt
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...
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