Takanori Hazama

Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Ql0 in Kearns‐Sayre syndrome

In a patient with Kearns-Sayre syndrome, concentration of coenzyme Ql0, a component of the mito-chondrial electron transport system, was decreased in serum and in the mitochondrial fraction of skeletal muscle. Serum concentrations of lactate and pyruvate were abnormally high, especially after exercise or oral glucose loading. Levels of folic acid in plasma and CSF were decreased. ECG showed a first-degree atrioventricular block. After administration of coenzyme Ql0 60 to 120 mg daily for 3 months, serum levels of lactate and pyruvate became normal, with improvement of atrioventricular block and ocular movements.

Involvement of the central nervous system in myotonic dystrophy

To investigate the etiological factors responsible for intellectual impairment and mood changes in patients with myotonic dystrophy (DM), we evaluated 14 patients with DM by means of neuropsychological evaluation and magnetic resonance images (MRI). There were significant differences between patients and controls in regard to the Barthel index, Zungs depression scale, attention, verbal fluency and digit span. All patients had ventricular enlargement and white matter abnormalities on MRI. However, the severity was variable and there was no difference in neuropsychological testing between patients with mild ventricular dilatation and those with severe dilatation. On the other hand, significant differences were present between patients with mild white matter lesions and those with severe white matter abnormalities in regard to verbal fluency and attention. Neuropathologic examination of an autopsied brain showed an increase in the interfascicular space of the white matter which produced pallor on myelin staining. The present findings suggested that the white matter abnormalities were the cause of cognitive impairment among patients with DM.

Single‐photon emission computed tomographic investigation of patients with motor neuron disease

To investigate the correlation between involvement of the CNS in motor neuron disease (MND) and neuroimaging abnormalities, we studied 18 patients with MND by single-photon emission computed tomography (SPECT) and MRI. Patients were divided into four groups according to the results of SPECT. Group 1 consisted of four patients with reduced isotope uptake in the frontal lobe, including the motor area, and in the anterior part of the temporal lobe; group 2 consisted of two patients with reduced isotope uptake in the motor area spreading to the adjacent frontal lobe; group 3 consisted of eight patients with reduced isotope uptake confined to the motor area; and group 4 consisted of four patients without reduced isotope uptake. We found dementia in group 1, borderline dementia in group 2, and no cognitive deficit in group 3 or four. MRI demonstrated enhanced T2-weighted signals along the pyramidal tract in eight patients, but this finding also existed in some control subjects. SPECT appears useful in identifying the location of cortical neuronal degeneration in patients with MND.

Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy

We present here a 28-year-old male patient with Becker muscular dystrophy whose skeletal muscle showed an absence of dystrophin. He has had progressive and predominantly proximal muscular wasting since 5 years of age, but was able to walk until 26 years of age. He showed hypertrophic calves, cardiomyopathy, and an elevated serum creatine kinase level (934 U/1). A skeletal muscle biopsy revealed advanced chronic myopathic changes. Immunohistochemical examination using anti-dystrophin antibodies against C-terminus showed deficiency of the protein. Rod domain and N-terminus were also absent in almost all muscle fibers, but only in a small part of the sample, they were faintly stained. beta-Dystroglycan and utrophin were present only in a small number of muscle fibers. DNA and RT-PCR analysis showed a frame-shift deletion of exons 3-7 in the dystrophin gene. In such an exceptional case as this one, it is important to investigate the factors which determine the severity of dystrophinopathy.

Parkinson's disease and myasthenia gravis Adverse effect of trihexyphenidyl on neuromuscular transmission

A 55-year-old man with idiopathic Parkinsons disease developed myasthenia gravis shortly after taking trihexyphenidyl. The myasthenic weakness waxed and waned with rise and fall in serum levels of trihexyphenidyl, without marked change of anti-acetylcholine receptor antibody titer.

Trophic effect of iron-bound transferrin on acetylcholine receptors in rat skeletal muscle in vivo ☆

Trophic effect of iron-bound transferrin (FeTf) on the total content of acetylcholine receptors (AChRs) and the specific activity of AChRs in innervated and denervated skeletal muscle was investigated in vivo. The right ischiadic nerves of 15 rats weighing 160 g were transected. FeTf (1.2 mg/ml) was injected daily into bilateral crural muscles of rats for the following 11 days. Control groups received injections of saline or no treatment. FeTf significantly increased the total content of AChRs and the specific activity of AChRs in innervated and denervated muscle compared with control groups (P less than 0.001). This result shows that intramuscular injections of FeTf may be useful for the treatment of disorders of neuromuscular transmission.

Focal luxury perfusion with an early-filling vein in relation to neurological symptoms evoked by heat

SummaryA 50-year-old man with a 1-year history of transient attacks of left total hemiparesis was admitted to hospital with a complaint of increasing frequency of attacks. Minimal or moderate left hemiparesis was elicited by elevation of environmental temperature when taking a hot bath or a hot shower. Right carotid angiography revealed an early-filling vein near the right central sulcus. An increase of focal luxury perfusion by elevation of body temperature seemed to cause relative ischaemia in this paracentral gyrus.

Electrophoretic immunoblotting analysis of anti-thymus microsome antibodies in patients with myasthenia gravis

ABSTRACT— Anti‐thymus microsome antibodies and anti‐skeletal muscle microsome antibodies in sera from patients with myasthenia gravis (MG) were analyzed by means of immunoblotting, which was performed after SDS polyacrylamide gel electrophoresis of antigens to clarify the pathogenic role of the thymus in MG. Antithymus microsome antibodies were detected in 15 of the 20 cases of MG examined. The detection frequency (75%) was significantly higher than the corresponding frequency determined for antimuscle microsome antibodies (35%) in the same group of patients. Thymic antigens with a molecular weight of 38 kilodaltons (KD), 60 KD and 220 KD were often recognized by antibodies in sera from MG patients studied here. The antithymus microsome antibodies were not crossreactive with either thymic acetylcholine receptors or lymphocyte surfaces. These findings indicated that the specific antibodies were produced to the thymic microsomal fraction, and its frequency was higher than has been suspected in MG patients.

A case of acute autonomic and sensory neuropathy (AASN) with antibody against a mixture of galactocerebroside and phospholipids.

A 62-year-old woman presented with paresthesia of limbs, gait disturbance, urinary retention and constipation following upper respiratory infection. Neurological examination revealed gait disturbance due to loss of position sense in her extremities with intact muscle power, and autonomic failure represented by orthostatic hypotension, constipation and autonomic bladder. Cerebrospinal fluid analysis showed normal cell counts with elevated protein levels. Nerve conduction study showed sensory nerve impairment with almost normal motor nerve conduction in her upper and lower extremities. Sympathetic skin response of both hands was unresponsive, indicating autonomic nervous dysfunction. We diagnosed her as having acute autonomic and sensory neuropathy (AASN) and treated her with intravenous immunoglobulin, which ameliorated her symptoms enabling her to walk without any assistance at the time of discharge. Screening tests of serum autoantibodies revealed positivity of antibody against a mixture of galactocerebroside (Gal-Cer) and phospholipids. According to previous literature, no specific antibodies have been identified in AASN. This case, therefore, suggests a possible role of anti-Gal-Cer antibody in the pathogenesis of AASN.

ステロイド依存的に画像上再発を繰り返した成人発症multiphasic disseminated encephalomyelitisの1例

A 64-year-old man presented with acute onset of generalized seizure and encephalopathy. FLAIR images of brain MRI showed multifocal high-intensity lesions of the white matter. Within few days after the treatment with intravenous methylprednisolone (1,000 mg/day for 3 days), amelioration of clinical symptoms and recovery of MRI findings were observed. Six months after the withdrawal of oral steroid therapy, recurrent lesions were observed at the same locations as initially revealed on admission. Due to the concomitant development of peripheral lymphocytosis, a brain biopsy was performed from a right frontal lesion. Histological findings suggested extensive demyelination accompanied by infiltration of inflammatory lymphocytes and macrophages. In spite of the temporary remission after re-initiation of oral steroid therapy, reduction of oral steroid dosage resulted in new lesion formation apart from the initial locations. Based upon clinical features, MRI findings and histological examination, he was diagnosed with multiphasic disseminated encephalomyelitis (MDEM). Acute disseminated encephalomyelitis (ADEM) is one of common causes of demyelinating disease among children. However, multiphasic form of ADEM is particularly rare in adult patients. Here we reported a rare case of adult-onset MDEM, in which clinical, radiological and histological features were described, and efficacy of steroid therapy was highlighted.