Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report.

RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." PATIENT CONCERNS: We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions. DIAGNOSES: The patient was diagnosed as exhibiting CPEO plus syndrome. INTERVENTIONS: The patient underwent clinical, genetic, histological, and histochemical analysis. She was treated orally with CoQ10, vitamin Bs, L-carnitine, and vitamin E. OUTCOMES: The patient's serum creatine kinase levels, electrocardiography, and nerve conduction study results were normal; an electromyogram revealed myopathic findings. Magnetic resonance imaging showed global brain atrophy, particularly in the brainstem and cerebellum areas. A muscle biopsy showed the presence of abundant ragged red fibers. Sequencing of the mitochondrial DNA from the skeletal muscle biopsy revealed C960del mutation in 12S rRNA and homozygous mutation C2835T in 16S rRNA. She took medicines on schedule, the clinical features were similar as 2 years ago. LESSONS: This is the first report of 2 rRNA mutations in a patient with MRI findings showing global brain atrophy, particularly in brainstem and cerebellum areas. Early recognition and appropriate treatment is crucial. This case highlights the cerebellar ataxia can occur in CPEO plus.

The effectiveness of Tai Chi for patients with Parkinson's disease: study protocol for a randomized controlled trial.

BACKGROUND: Parkinson's disease (PD) is a common degenerative neurological disorder that causes loss of independence and decreased quality of life. The prevalence of PD tends to increase with age. In China, the morbidity rate of PD among people aged more than 65 years old is 1.70%. As an important component of traditional Chinese Qigong exercises, Tai Chi is a popular and safe exercise, especially for older adults in China. And it may result in promising gains for PD patients. However, current evidence is insufficient to inform the use of Tai Chi in the management of PD. Therefore, the aim of this trial is to systematically evaluate the effect of Tai Chi on PD and determine whether Tai Chi is an eligible exercise program for Chinese PD patients. METHODS/DESIGN: A single-blind, parallel randomized controlled trial will be conducted. One hundred and forty-two patients with PD will be randomly assigned to a Tai Chi group (n = 71) or routine exercise group (n = 71). Subjects will participate in supervised study programs 3 times per week for 2 months and will be followed for an additional 6 months after formal training stops. The primary outcome measures include Berg Balance Scale, Timed Up and Go Test and Six-Minute Walk Test, which are known to be valid and reliable clinical instruments. The Unified Parkinson's Disease Rating Scale Motor Section and Parkinson's Disease Questionnaire-39 will be used as the secondary outcome measure. All outcomes will be measured at baseline, 2 and 8 months. The sample for this trial (N = 142) will provide relevant information to detect the improvement of balance, gait and quality of life in either of the 2 exercise groups. DISCUSSION: Findings from this study will provide insights into the effects of Tai Chi in people with PD. The information gained from this project has the potential to influence the clinical decisions of Chinese doctors, and will provide clear evidence as to whether Tai Chi should be advocated in people with PD. TRIAL REGISTRATION: The trial was registered at ( ChiCTR-TRC-14004549 ) on 22 April 2014.