Blakely EL

Carter JE

de Silva RN

Kartsounis LD

O'Donovan DG

Swalwell H

Taylor RW

Turnbull DM

Young TM

Background: 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 investigations 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\u27s progressive neurological disorder, with mitochondrial genome sequencing revealing a novel m. 586G&gt;A 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

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Mitochondrial Transfer RNA(Phe) Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia- Rigidity

Mitochondrial Transfer RNA(Phe) Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia- Rigidity

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