Mitochondrial Transfer RNAPhe Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia-Rigidity

Tim M. Young, Emma L. Blakely, Helen Swalwell, Janet E. Carter, Luke D. Kartsounis, Dominic G. O'Donovan, Douglass M. Turnbull, Robert W. Taylor, Rajith N. de Silva
2010 Archives of Neurology  
Mitochondrial diseases are characterized by wide phenotypic and genetic variability, but presentations in adults with akinetic rigidity and hyperkinetic movement disorders are rare. Objectives: To describe clinically a subject with progressive neurodegeneration characterized by psychosis, dementia, and akinesia-rigidity, and to associate this phenotype with a novel mitochondrial transfer RNA Phe (tRNA Phe ) (MTTF) mutation. Design, Setting, and Patient: Case description and detailed laboratory
more » ... nvestigations of a 57-year-old woman at a university teaching hospital and a specialist mitochondrial diagnostic laboratory. Results: Histopathological findings indicated that an underlying mitochondrial abnormality was responsible for the subject's progressive neurological disorder, with mitochondrial genome sequencing revealing a novel m.586GϾA MTTF mutation. Conclusions: The clinical phenotypes associated with mitochondrial disorders may include akinesia-rigidity and psychosis. Our findings further broaden the spectrum of neurological disease associated with mitochondrial tRNA Phe mutations.
doi:10.1001/archneurol.2010.283 pmid:21060018 fatcat:tfvazah4zbbp3atgot7scfub3a