Young Tim M, Blakely Emma L, Swalwell Helen, Carter Janet E, Kartsounis Luke D, O'Donovan Dominic G, Turnbull Douglass M, Taylor Robert W, de Silva Rajith N
Essex Centre for Neurological Sciences, Queen's Hospital, Romford RM7 0AG, United Kingdom.
Arch Neurol. 2010 Nov;67(11):1399-402. doi: 10.1001/archneurol.2010.283.
Mitochondrial diseases are characterized by wide phenotypic and genetic variability, but presentations in adults with akinetic rigidity and hyperkinetic movement disorders are rare.
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.
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.
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.
线粒体疾病具有广泛的表型和遗传变异性，但成人出现运动不能性强直和多动性运动障碍的情况较为罕见。
临床描述一名以精神病、痴呆和运动不能 - 强直为特征的进行性神经退行性变患者，并将该表型与一种新的线粒体苯丙氨酸转运RNA（tRNA(Phe)）（MTTF）突变相关联。
设计、地点和患者：在一所大学教学医院和一家专业线粒体诊断实验室对一名57岁女性进行病例描述和详细实验室检查。
组织病理学检查结果表明，潜在的线粒体异常是该患者进行性神经疾病的病因，线粒体基因组测序发现一种新的m.586G>A MTTF突变。
与线粒体疾病相关的临床表型可能包括运动不能 - 强直和精神病。我们的发现进一步拓宽了与线粒体tRNA(Phe)突变相关的神经疾病谱。
