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Kearns Sayer Syndrom

Loreto V T Rose, Nectarios T Rose, James E Elder, David R Thorburn, Avihu Boneh
To investigate ophthalmologic manifestations in children with definitive oxidative phosphorylation disorders, a retrospective review was conducted of clinical and laboratory records of all such pediatric patients (n = 103) diagnosed and treated at one center between 1983 and 2006. All were residents of Victoria, Australia. Nystagmus or roving eye movements were the most common ophthalmologic manifestations as a presenting symptom of disease (13/20) and were the sole manifestation at presentation in 10/13 patients...
June 2008: Pediatric Neurology
Ying Zhang, Zhao-xia Wang, Shu-lan Niu, Yu-feng Xu, Pei Pei, Yun Yuan, Yan-ling Yang, Yu Qi
OBJECTIVE: To discuss the clinical characteristics associated with mitochondrial DNA A3243G mutation. METHODS: Clinical manifestations as well as results of brain CT and/or MRI scanning, blood level of lactic acid and muscle biopsy results of 25 mitochondrial encephalomyopathies patients whose A3243G mutations were analyzed. RESULTS: Although all of the 25 patients carried mtDNA A3243G point mutation, their clinical manifestations varied greatly...
February 2005: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
Justyna FijoĊ‚ek, Elzbieta Wiatr, Anna Wiechecka, Adam Torbicki, Andrzej Biederman, Anatol Mickielewicz, Kazimierz Roszkowski-Sliz
A case of pulmonary thromboembolism with transient pulmonary hypertension of a rare cause is presented. In 24-year-old woman myasthenia was recognised on the ground of ptosis and fixation of eyes muscles from the 14th year of age. The treatment with mestinon was ineffective. Before planned thymectomy serious disturbances of heart rhythm and conduction were confirmed. Stimulator was implanted and thymectomy was done. No improvement of neurological state was observed despite the treatment with mestinone and prednisone...
2003: Pneumonologia i Alergologia Polska
Yoshifumi Umaki, Takao Mitsui, Itsuro Endo, Masashi Akaike, Toshio Matsumoto
Much interest has recently been shown in apoptosis-mediated roles in the pathophysiology of mitochondrial diseases, because mitochondrial defects are implicated in a wide variety of degenerative diseases. We investigated whether apoptotic events occurred in skeletal muscles of patients with mitochondrial diseases, including chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayer syndrome (KSS), and mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). In a immunohistochemical study, stainings for 8-hydroxy-deoxyguanosine (8-OH-dG), 4-hydroxy-nonenal (4-HNE), Mn-SOD, Bcl-2, cytochrome c, DNase I and Bcl-x L showed a pronounced granular distribution in the cytochrome c oxidase (COX)-negative ragged-red fibers (RRFs)...
February 2002: Acta Neuropathologica
N Nakamura, N Hattori, M Tanaka, Y Mizuno
We report a new method for the specific detection of the mutant mitochondrial DNA (mtDNA) that contains the 4977-bp deletion. We designed an oligonucleotide probe that was designated the 'ATP8/ND5 Chimera' probe: its 5'- and 3'-portions correspond to the ATP8 gene and the ND5 gene, respectively, and its middle portion includes the 13-bp direct repeat sequence that flanks the 4977-bp deletion. By Southern blot analysis, this chimeric probe specifically detected the deleted mtDNA, even in the presence of both normal mtDNA and other mtDNA deletions...
September 11, 1996: Biochimica et Biophysica Acta
R Kodaka, Y Itagaki, M Matsumoto, T Nagai, S Okada
BACKGROUND AND PURPOSE: To elucidate the pathogenic role of vascular involvement such as mitochondrial angiopathy in patients with mitochondrial encephalomyopathy (MEM). we used the transcranial Doppler sonography (TCD) method to detect impairment of cerebrovascular CO2 reactivity. METHODS: The cerebral perfusion reserve in 13 MEM patients, including 6 with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) was studied by TCD for different CO2 partial pressures...
August 1996: Stroke; a Journal of Cerebral Circulation
M N D'Ambra, D Dedrick, J J Savarese
No abstract text is available yet for this article.
October 1979: Anesthesiology
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