Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

ABSTRACT:

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

SUBMITTER: Papandreou A 

PROVIDER: S-EPMC6326959 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature