[Satoyoshi syndrome].

Satoyoshi syndrome is a rare disorder of unknown case characterized by progressive painful intermittent muscle spasms, alopecia, malabsorption amenorrhea and skeletal abnormalities mimicking a skeletal dysplasia.

Adult moyamoya disease in the asymptomatic Japanese population.

Moyamoya disease (MMD) is a spontaneous occlusive disease of the Willis circle. This study evaluated the presence of the radiological hallmarks of adult MMD on a "brain check-up" (BC) using MRI and MR angiography, in Japan. BC was offered to 11,402 healthy subjects (7570 men and 3832 women) between January 1997 and November 2003.

Acetazolamide-induced muscle weakness in hypokalemic periodic paralysis.

A 46-year-old man with hypokalemic periodic paralysis (HypoPP) and diabetes mellitus (DM) had worsened muscle weakness after acetazolamide (ACZ) treatment. During the paralytic episode, serum potassium levels were reduced, and serum chloride and insulin levels were increased. The data suggested proximal renal tubular acidosis due to ACZ.

Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy.

The question whether oculopharyngodistal myopathy (MIM 164310) is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (MIM 164300) persists. To answer this question, we examined five patients with the clinical characteristics of oculopharyngodistal myopathy for GCG expansion in poly(A)-binding protein nuclear 1 gene (previously called poly(A)-binding protein 2), the causative gene defect for oculopharyngeal muscular dystrophy. Only one of our five patients had the significant GCG expansion.

[A case with posterior column ataxia associated with cerebellar ataxia and sensory neuropathy].

The patient was a 72-year-old man who had a history of subtotal gastrectomy for gastric ulcer at age of 37 years. He had no familial history of hereditary disorders. In 1980 he noticed mild ataxic gait which exaggerated while he closed eyes.

Satoyoshi's syndrome in an adult: a review of the literature of adult onset cases.

Satoyoshi syndrome consists of painful intermittent muscle spasms, alopecia and diarrhea. The age of onset is commonly less than 20 years of age. Adult onset of this syndrome is rare.

[Palato-pharyngo-laryngeal myoclonus].

Palato-pharyngo-laryngeal myoclonus is well-known clinical criterion characterized by persistent, rapid, repetitive, rhythmic muscle twitch the rate of which ranges 50-200 Hz. It appears in the palate, pharynx, larynx, diaphragma, and the ocular or limb muscles, but the most common combination of the distribution is palate-pharyngo-laryngeal type or only palatal type. In most instances the movement is synchronous, but others show asynchronous myoclonus at different rates.

Skeletal abnormalities in Satoyoshi's syndrome: a radiographic study of eight cases.

Skeletal abnormalities of eight patients with Satoyoshi's syndrome, a rare condition of unknown etiology characterized by progressive muscle spasms, alopecia, and diarrhea, were studied radiographically. Various skeletal changes were observed including metaphyseal lesions, slipping of multiple epiphyses, cystic lesions, acroosteolysis and osteolysis, bone fragmentation at tendinous insertions, fatigue fractures, and early osteoarthrosis. This wide range of lesions is likely to be due to repeated injuries to the growth plates, epiphyses, and tendon attachments in the growing skeleton caused by recurrent vigorous muscle spasms.

Therapeutic trials on progressive muscular dystrophy.

The special medical care in the National Sanatorium prolonged the life span of the patients with progressive muscular dystrophy from 15.8 years to 20.4 years over the last 20 years.

[Divergence paralysis due to a lesion of the lateral tegmentum of the midbrain caused by thalamic hemorrhage].

A 66-year-old diabetic and hypertensive man suddenly developed right hemiplegia. Examination revealed right hemiplegia including his face, vertical gaze palsy, and divergence paralysis. The cranial CT scan disclosed a left thalamic hemorrhage as large as 40 mm in diameter, which extended to the midbrain.

1-[11C]pyruvate turnover in brain and muscle of patients with mitochondrial encephalomyopathy. A study with positron emission tomography (PET).

We examined pyruvate turnover using 1-[11C]pyruvate in the brain and epicranial muscle of 6 patients with mitochondrial encephalomyopathy (MEM), diagnosed by muscle biopsy and mitochondrial enzyme assay. The radioactivity was measured by positron emission tomography (PET). The time-activity curve for 11C in both brain and muscle generated after i.

Distal myopathy.

Various types of the distal myopathy except Welander's late distal myopathy of Swedish type were described. There were many reports in the past concerning the varieties of the distal myopathy. Distal myopathy is a rather rare disorder and it may be difficult to diagnose these cases.

[Two cases of mitochondrial myopathy (focal cytochrome c oxidase deficiency), long-term follow-up on a diagnosis of ocular type myasthenia gravis].

Two patients (a 50-year-old and a 35-year-old men) with focal cytochrome c oxidase deficiency, manifesting ptosis and external ophthalmoplegia of 13 and 6 years' duration, respectively, were reported. Patient 1 (a 50-year-old male) had also slight muscular weakness of the proximal limb and neck flexor muscles. Diagnosis of myasthenia gravis had been made on the clinical findings including ptosis and external ophthalmoplegia, diurnal fluctuation of symptoms, and equivocal positive Tensilon test.

Neurotoxicity of human eosinophils towards peripheral nerves.

The toxicity of eosinophils towards peripheral nerves was examined using cultures of posterior ganglion cells from chick embryos. Eosinophils were also derived from a patient with significant "hyper-eosinophilia", peripheral neuropathy, bronchial asthma, myocardial damage and skin involvement. A sural nerve biopsy showed a severe to almost complete loss of myelinated fibers without pathological changes suggesting necrotizing vasculitis.

Supranuclear paralysis preventing lid closure in amyotrophic lateral sclerosis.

We report a case of amyotrophic lateral sclerosis (ALS) in which the ability to close the eyes on command or voluntarily, was lost in spite of retention of reflex activity. A electrophysiological study of the blink reflex revealed a prominent R1 component with normal latency, which confirmed that the blink reflex was exactly preserved and also suggested a hemispherical lesion. Postmortem examination disclosed prominent cortical and subcortical lesions of the precentral areas on both sides.

[A case of symptomatic adrenoleukodystrophy heterozygote manifested by spastic paraparesis of late onset].

A case of symptomatic adrenoleukodystrophy (ALD) heterozygote, manifested by spastic paraparesis, was reported. The patient's 9 year-old grandson had ALD, and her 34 year-old daughter, who was the mother of the case of ALD, was asymptomatic but accompanied by elevation of serum very long chain fatty acid (VLCFA). The patient's gait disturbance appeared at age 62 and that gradually worsened.

Positron emission tomography using pyruvate-1-11C in two cases of mitochondrial encephalomyopathy.

Positron emission tomography (PET) using pyruvate-1-11C was carried out to investigate the in vivo metabolism of pyruvate in the brains of patients with mitochondrial encephalomyopathy and Leigh's disease. Two epileptic patients were studied as control subjects. Radioactivity was eliminated from the brain tissue of the epileptic patients soon after injection of pyruvate-1-11C.

[Positron emission tomography in two cases of transient global amnesia].

We encountered two cases of typical transient global amnesia (a 53-year-old woman and a 50-year-old man). Both cases showed no evidence of abnormal findings which caused the attack on examinations of CSF, EEG, brain CT, brain MRI and cerebral angiography. Examinations of positron emission tomography, using 15O labeled CO2 and O2, were performed on 14 and 8 days after the attack in the female and male cases, respectively, and those disclosed decreased regional blood flow (CBF), increased oxygen extraction ratio (OER), and decreased oxygen metabolic ratio (CMRO2) in the bilateral medial temporal and occipital lobes, which were supplied by the bilateral posterior cerebral arteries.

Catecholamines increase nerve growth factor mRNA content in both mouse astroglial cells and fibroblast cells.

Previous studies have shown that catecholamines increase the nerve growth factor (NGF) content in medium conditioned by mouse L-M fibroblast cells and mouse astroglial cells. In this study, the NGF mRNA levels in these cells were measured by Northern blot analysis. In astroglial cells treated with epinephrine (EN), the cellular NGF mRNA level increased prior to accumulation of NGF in the culture medium.

Distal myopathy with rimmed vacuole formation. A follow-up study.

A long-term follow-up study of patients with familial distal myopathy with rimmed vacuole formation and a review of the literature indicates that the prognosis of the disorder was extremely poor as to daily life. Although the initial symptom appearing in early adulthood was muscular wasting and weakness in the legs, especially the distal muscles, severe generalized skeletal muscle involvement with sparing of the facial, extraocular, bulbar, intercostal and diaphragm muscles was recognized in the advanced stage. The disease is probably inherited as an autosomal recessive trait, while there is a considerable female preponderance, the female-to-male ratio being 2:1.