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Lookup NU author(s): Dr Helen Swalwell, Emeritus Professor Doug Turnbull, Professor Robert Taylor
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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's progressive neurological disorder, with mitochondrial genome sequencing revealing a novel m. 586G>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.
Author(s): Young TM, Blakely EL, Swalwell H, Carter JE, Kartsounis LD, O'Donovan DG, Turnbull DM, Taylor RW, de Silva RN
Publication type: Article
Publication status: Published
Journal: Archives of Neurology
Year: 2010
Volume: 67
Issue: 11
Pages: 1399-1402
Print publication date: 01/11/2010
ISSN (print): 0003-9942
ISSN (electronic): 1538-3687
Publisher: American Medical Association
URL: http://dx.doi.org/10.1001/archneurol.2010.283
DOI: 10.1001/archneurol.2010.283
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