Ocular Motor Disorders in Mitochondrial Encephalopathy With Lactic Acid and Stroke-Like Episodes With the 3271 (T-C) Point Mutation in Mitochondrial DNA

Shinmei, Yasuhiro; Kase, Manabu; Suzuki, Yasuo; Nitta, Tsuyoshi; Chin, Shinki; Yoshida, Kazuhiko; Goto, Yu‐ichi; Nagashima, Toshiko; Ohno, Shigeaki

doi:10.1097/wno.0b013e3180334cb0

Cited by 13 publications

(12 citation statements)

References 24 publications

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“…Iwasaki et al suggested a relationship with the vestibular dysfunction of the mitochondrial A3243G mutation [6] . In addition, there are only reports from Shinmei et al [7] and Choi et al [8] for eye movement abnormality; thus, our report is the first one describing ENG. Shidara et al [9] explained that there is less vestibular damage compared to hearing impairment because it is resistant to an ischemic condition or is anatomically likely to obtain blood flow from the collateral circulation.…”

Section: Discussionmentioning

confidence: 87%

“…In addition, an ETT in ENG revealed a saccadic pattern, which is said to be exhibited by the brainstem/cerebellar single lobe disorder, and OKN showed a decrease in nystagmus velocity caused by a brainstem lesion [10] . With regard to the caloric test, in previous reports, there were various findings, and bilateral nonresponsive cases were also observed, but an apparent caloric response was seen in this case [7] . Therefore, at the least, the neural transmission and function remained via the lateral semicircular canals, superior vestibular nerves, and vestibular nuclei.…”

Section: Discussionmentioning

confidence: 93%

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Repeated Attacks of Dizziness Caused by a Rare Mitochondrial Encephalomyopathy

et al. 2018

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Cases of dizziness caused by multiple sclerosis are commonly reported, but those caused by mitochondrial encephalomyopathy have been rarely reported. Particularly, the description of eye nystagmography (ENG) using caloric and optokinetic nystagmus tests has not been reported to date. We encountered the case of a 40-year-old woman with mitochondrial encephalomyopathy who visited us with the chief complaint of dizziness. At first, we considered multiple sclerosis based on the magnetic resonance imaging (MRI) findings and dizziness. Repeated attacks of dizziness and serum lactic acid levels suggested mitochondrial encephalomyopathy. A muscle biopsy confirmed the diagnosis. ENG findings suggested central vestibular disorder of the cerebellum and brainstem. This case suggests that we should not rule out the differential diagnosis of a very rare mitochondrial encephalomyopathy in patients who experience dizziness with MRI findings indicative of multiple sclerosis.

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Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 93%

Repeated Attacks of Dizziness Caused by a Rare Mitochondrial Encephalomyopathy

et al. 2018

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“…Shinmei et al (11) described persistent ocular motor dysfunction (including downbeat nystagmus, square wave jerks, impaired SP, and hypermetric and hypometric saccades) in patients with MELAS and normal MRI. Shinmei et al (11) described persistent ocular motor dysfunction (including downbeat nystagmus, square wave jerks, impaired SP, and hypermetric and hypometric saccades) in patients with MELAS and normal MRI.…”

Section: Discussionmentioning

confidence: 99%

Pursuit-Paretic and Epileptic Nystagmus in MELAS

Choi

Kim

et al. 2012

Journal of Neuro-Ophthalmology

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A 27-year-old man with MELAS 3243 mutation developed a right homonymous hemianopia, left beating nystagmus, and impaired smooth pursuit (SP) to the left. Intermittently, the left beating nystagmus changed to right beating with rightward eye and head deviation and associated altered mental status. Each episode lasted several minutes. MRI revealed restricted diffusion in left parieto-temporo-occipital cortices. During the ictus, electroencephalogram showed epileptic discharges in the left temporo-occipital region, and single photon emission computed tomography demonstrated hyperperfusion in the same area. The interictal left beating nystagmus may be ascribed to contralesional bias of SP imbalance since the parieto-temporo-occipital region is involved in the generation of SP. The ictal right beating nystagmus and rightward head and eye deviation indicate coactivation of the SP areas and parietal eye field. This report documents the novel co-occurrence of pursuit-paretic and epileptic nystagmus.

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“…However, at least 29 mitochondrial DNA (mtDNA) mutations and at least 7 mitochondrial transfer RNA gene mutations have been identified in the disorder. 1,6,8 Step Description 1a…”

Section: Mitochondrial Dna Mutationsmentioning

confidence: 99%

Treatment Options for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke‐Like Episodes (MELAS) Syndrome

Santa

2010

Pharmacotherapy

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Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare neurodegenerative disease caused by the decreased ability of cells to produce sufficient energy in the form of adenosine 5'-triphosphate. Although it is one of the most common maternally inherited mitochondrial disorders, its exact incidence is unknown. Caused most frequently by an A-to-G point mutation at the 3243 position in the mitochondrial DNA, MELAS syndrome has a broad range of clinical manifestations and a highly variable course. The classic neurologic characteristics include encephalopathy, seizures, and stroke-like episodes. In addition to its neurologic manifestations, MELAS syndrome exhibits multisystem effects including cardiac conduction defects, diabetes mellitus, short stature, myopathy, and gastrointestinal disturbances. Unfortunately, no consensus guidelines outlining standard drug regimens exist for this syndrome. Many of the accepted therapies used in treating MELAS syndrome have been identified through a small number of clinical trials or isolated case reports. Currently, the drugs most often used include antioxidants and various vitamins aimed at minimizing the demands on the mitochondria and supporting and maximizing their function. Some of the most frequently prescribed agents include coenzyme Q(10), l-arginine, B vitamins, and levocarnitine. Although articles describing MELAS syndrome are available, few specifically target education for clinical pharmacists. This article will provide pharmacists with a practical resource to enhance their understanding of MELAS syndrome in order to provide safe and effective pharmaceutical care.

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Ocular Motor Disorders in Mitochondrial Encephalopathy With Lactic Acid and Stroke-Like Episodes With the 3271 (T-C) Point Mutation in Mitochondrial DNA

Abstract: On the basis of eye movement recordings, patients with MELAS have frontal cortex as well as cerebellar dysfunction.

Cited by 13 publications

References 24 publications

Repeated Attacks of Dizziness Caused by a Rare Mitochondrial Encephalomyopathy

Repeated Attacks of Dizziness Caused by a Rare Mitochondrial Encephalomyopathy

Pursuit-Paretic and Epileptic Nystagmus in MELAS

Treatment Options for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke‐Like Episodes (MELAS) Syndrome

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