Clinical Phenotype and Segregation of Mitochondrial 3243A>G Mutation in 2 Pairs of Monozygotic Twins.

IMPORTANCE: The regulatory factors explaining the wide spectrum of clinical phenotypes for mitochondrial 3243A>G mutation are not known. Crosstalk between nuclear genes and mitochondrial DNA might be one factor. OBSERVATIONS: In this case series, we compared 2 pairs of male twins with the mitochondrial 3243 A>G mutation and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome with a female control patient. One pair of monozygotic twins presented with diabetes and deafness in their 30s, stroke-like episodes in their 40s, and cardiac events and death in their 50s. Another pair of twins presented with deafness and stroke-like episodes in their 20s. The degree of heteroplasmy of 3243A>G mutation in the various tissues and organs was similar in the first pair of twins compared with the control patient. CONCLUSIONS AND RELEVANCE: The clinical phenotype and segregation of mitochondrial 3243A>G mutation was similar in monozygotic twins. The onset age and distribution of the symptoms might be regulated by nuclear genes. Our findings might help to predict the clinical course of the surviving twins and afford an opportunity for therapy before the onset of mitochondrial disease, especially for monozygotic twins caused by nuclear transfer with a small amount of nuclear-donor mitochondrial DNA.

Agraphia in Mobile Text Messages in a Case of Amyotrophic Lateral Sclerosis with Frontotemporal Dementia.

We herein describe the case of a woman with amyotrophic lateral sclerosis (ALS) showing errors in her choice of Japanese kana characters in her mobile text messages and agraphia of the kana in her handwriting in spite of the absence of weakness, ataxia, or apraxia of her hands. Magnetic resonance imaging showed the atrophy of the frontal lobes. Single-photon emission computed tomography revealed hypoperfusion of the frontal lobes including Exner's area. Although patients with bulbar-onset ALS have been reported to show agraphia of handwriting, in this case the basis of her agraphia might have been the disturbance of the pathway converting phones to graphemes in series, by which errors of spelling or writing would appear in any modality of output.

A family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1.

We herein describe a Japanese family with distal hereditary motor neuropathy carrying a K141Q mutation of small heat shock protein HSPB1. Two patients among them had late onset disease (older than 50 years). The muscles of the distal legs were weak and atrophic. Sensory and autonomic dysfunction were not seen. Even eight years after onset, one patient could still walk without support. A nerve conduction study revealed axonal degeneration of the motor nerves of the legs. A heterozygous K141Q mutation was detected in the affected patients. The late onset and mild clinical phenotype might reflect the mild biochemical alteration of HSP27 induced by the K141Q mutation.

Acute disseminated encephalomyelitis following 2009 H1N1 influenza vaccination.

Since the worldwide spread of the novel influenza type A virus in 2009, trivalent vaccines against H1N1 (pandemic) 09 and seasonal influenza have been used. We describe a 33-year-old woman who presented with hypoesthesia below the Th7 level fifteen days after vaccination without any preceding infection. Cerebrospinal fluid showed an increased level of myelin basic protein and positive oligoclonal IgG bands. Magnetic resonance imaging revealed disseminated lesions in the brain and thoracic cord. Steroid therapy improved her symptoms. She was diagnosed as having acute disseminated encephalomyelitis (ADEM) possibly related to the vaccination. As a potential adverse effect of the influenza vaccine, in addition to Guillain-Barré syndrome, ADEM should also be recognized.

Mistaken identity: severe vomiting, bradycardia and hypotension after eating a wild herb.

A 53-year-old woman presented with severe vomiting 3.5 hours after eating a boiled wild herb thought to be Hosta montana. She was alert, and did not complain of diplopia or numbness of her limbs. Her vital signs were temperature of 35.9°C, blood pressure of 84/33 mmHg, and heart rate of 59 beats/minute. There was no arrhythmia or conduction block on electrocardiogram. Her blood pressure and heart rate were decreased to 75/44 mmHg and 51 beats/minute at the minimum, respectively. Complete blood count and serum chemistry were normal. The herb was correctly identified when the patient's husband brought in the herb for identification.

[Case of defective route finding following right anterior thalamic infarction].

Defective route finding is a symptom in which an indivisual demonstrates inhibility to find the way in the familiar places. This symptom arises from lesions at the right parieto-occipital region and the right posterior part of the splenium of the corpus callosum. We present a case of defective route finding resulting from the right anterior thalamic infarction. A 63-year-old right-handed man abruptly presented with difficulty in route finding on his way home. Neither spatial neglect nor agnosia was observed with pictures of his house and surrounding streets. Although there was an attention disturbance, his activities of daily living were spared. Brain MRI revealed a fresh infarction at the right anterior nucleus of the thalamus. Single photon emission computed tomography using 123I-methyltyrosine showed hypoperfusion at the right parieto-occipital region as well as the right thalamus. Neuropsychological tests showed visuospatial memory disturbance. To our knowledge, this is the first report of defective route finding caused by the right anterior thalamic infarction. The right anterior thalamic nucleus might be involved in the visuospatial recognition circuit.