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Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
- Source :
- Orphanet Journal of Rare Diseases
- Publisher :
- Springer Nature
-
Abstract
- Background Inherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders. Methods This retrospective cohort study does not have inclusion criteria; rather included all patients who underwent cerebrospinal fluid (CSF) homovanillic and 5-hydroxyindol acetic acid measurements. Patients with CSF neurotransmitter investigations suggestive of an inherited neurotransmitter disorder and patients with normal or non-diagnostic CSF neurotransmitter investigations underwent direct sequencing of single gene disorders. Results There were 154 patients between October 2004 and July 2013. Four patients were excluded due to their diagnosis prior to this study dates. Two major clinical feature categories of patients who underwent lumbar puncture were movement disorders or epilepsy in our institution. Twenty out of the 150 patients (13.3%) were diagnosed with a genetic disorder including inherited neurotransmitter disorders (6 patients) (dihydropteridine reductase, 6-pyruvoyl-tetrahydropterin synthase, guanosine triphosphate cyclohydrolase I, tyrosine hydroxylase, pyridoxine dependent epilepsy due to mutations in the ALDH7A1 gene and pyridoxamine-5-phosphate oxidase deficiencies) and non-neurotransmitter disorders (14 patients). Conclusion Prevalence of inherited neurotransmitter disorders was 4% in our retrospective cohort study. Eight out of the 150 patients (5.3%) had one of the treatable inherited metabolic disorders with favorable short-term neurodevelopmental outcomes, highlighting the importance of an early and specific diagnosis. Whole exome or genome sequencing might shed light to unravel underlying genetic defects of new inherited neurotransmitter disorders in near future.
- Subjects :
- Male
medicine.medical_specialty
Pediatrics
Movement disorders
Adolescent
Cohort Studies
Epilepsy
Young Adult
Internal medicine
medicine
Genetics
Monoamine metabolism
Humans
Neurotransmitter metabolism
Genetics(clinical)
Pharmacology (medical)
Child
Exome
Pyridoxine-dependent epilepsy
Genetics (clinical)
Retrospective Studies
Inherited neurotransmitter disorders
Medicine(all)
Movement Disorders
business.industry
Research
Genetic disorder
Infant, Newborn
Infant
Retrospective cohort study
General Medicine
medicine.disease
Endocrinology
Pyridoxine metabolism
Gene Expression Regulation
Dystonic Disorders
Child, Preschool
medicine.symptom
business
Metabolism, Inborn Errors
Cohort study
Subjects
Details
- Language :
- English
- ISSN :
- 17501172
- Volume :
- 10
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Orphanet Journal of Rare Diseases
- Accession number :
- edsair.doi.dedup.....615e6a56f800360e12bc884d4d55a731
- Full Text :
- https://doi.org/10.1186/s13023-015-0234-9