Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.

Abstract

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.

• Authors: 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
• Journal: Archives of neurology (Arch Neurol) Vol. 67 Issue 11 Pg. 1399-402 (Nov 2010) ISSN: 1538-3687 [Electronic] United States
• PMID: 21060018 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Phenylalanine
• RNA, Transfer

Topics

• Atrophy (genetics, pathology, physiopathology)
• Brain (pathology, physiopathology)
• Dementia (genetics, pathology, physiopathology)
• Disease Progression
• Female
• Humans
• Magnetic Resonance Imaging
• Middle Aged
• Mitochondrial Diseases (genetics, pathology, physiopathology)
• Muscle Rigidity (genetics, pathology, physiopathology)
• Mutation
• Neurodegenerative Diseases (genetics, pathology, physiopathology)
• Neuropsychological Tests
• Phenylalanine (genetics)
• RNA, Transfer (genetics)