[Pathology of mitochondrial encephalomyopathies].
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Acidosis, Lactic↗
Biomedical subjects
E Ohama
Publications and source records attributed to E Ohama.
Tyrosine hydroxylase-immunoreactive intrinsic neurons in the Auerbach's and Meissner's plexuses of humans.
We carried out an immunohistochemical study of the Auerbach's and Meissner's plexuses of the human alimentary tract, using antiserum against tyrosine hydroxylase (TH), a rate-limiting enzyme of the catecholamine-synthesizing pathway. TH-immunoreactive intrinsic neuronal cell bodies were observed in both plexuses in almost all parts of the alimentary tract, being most frequent in the Auerbach's plexus of the lower esophagus.
Adolescent↗
A quantitative investigation of the substantia nigra in Huntington's disease.
To elucidate the quantitative and topographical changes of neurons in the substantia nigra in Huntington's disease (HD), sections from 4 HD patients and 8 age-matched control subjects were stained with cresyl violet and the numbers and localization of pigmented and nonpigmented neurons in the substantia nigra were examined. This study revealed a decrease of about 40% (p less than 0.01 or p less than 0.05) in neuronal number and a shrinkage of both pigmented and nonpigmented neurons in the substantia nigra in HD. Pigmented neuron number was decreased markedly in the ventral cell group. Loss of the neurons occurred in the medial and lateral thirds, but relative sparing of the neurons was seen in the central part of the substantia nigra. In contrast, loss of nonpigmented neurons was relatively uniform in the substantia nigra although it was more severe in the central part. We conclude that a primary neuronal degeneration occurs in the substantia nigra in HD.
Adult↗
Gene expression of a rat cerebellar Ca-binding protein, spot 35 protein.
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Animals↗
The auditory system in methyl mercurial intoxication: a neuropathological investigation on 14 autopsy cases in Niigata, Japan.
The auditory system in 14 autopsy cases of methyl mercurial intoxication in Niigata was examined neuropathologically. In addition to degeneration of the transverse temporal gyrus, there was also either significant loss of small myelinated fibers or decrease of large neurons in the cochlear nerve, ventral cochlear nucleus and inferior colliculus. The degree of decrease was higher in acute patients than in the chronic, and was not correlative to the severity of cerebrovascular sclerosis. The hearing impairment in methyl mercurial intoxication may be induced by the combined degeneration of the neurons or nerve fibers of these structures in both acute and chronic patients.
Adult↗
Adrenoleukodystrophy--early ultrastructural changes in the brain.
A light and electron microscopic study was performed on the cerebral white matter in a case of adrenoleukodystrophy (ALD) with peculiar symptoms of olivopontocerebellar atrophy. The affected white matter on the light microscope had many macrophages containing characteristic membrane-bound linear inclusions. The unaffected white matter on the light microscope demonstrated the following ultrastructural changes: (1) slight but definite degeneration of myelin sheaths scattered among apparently normal myelinated axons; (2) oligodendroglia-like cells containing membrane-free intracytoplasmic inclusions; and (3) many swollen astrocytes containing the same membrane-bound linear inclusions as those in the macrophages within the affected white matter. The mechanism of demyelination in ALD is also discussed.
Adrenoleukodystrophy↗
Pleiotropic molecular defects in energy-transducing complexes in mitochondrial encephalomyopathy (MELAS).
The extent of molecular defects in the mitochondrial energy-transducing system was examined in autopsied tissues of a 14-year-old male with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in order to elucidate the underlying molecular and genetic abnormalities. The patient also had other multiorganic disorders: hypertrophic cardiomyopathy, nephrotic syndrome, and pseudohypoparathyroidism. Enzymic activities of complex I and IV were severely decreased, and those of complex III and V were mildly decreased in the mitochondria isolated from various tissues, but the severity of the deficiencies varied from tissue to tissue. In contrast, complex II and citrate synthase activities were normal or were decreased to a lesser extent than the enzymic activities of other complexes in all the tissues examined. These results suggest that the energy-transducing complexes, namely complexes, I, III, IV, and V, that contain mitochondrially synthesized subunits, were selectively affected. Immunoblot analysis demonstrated that the decreased enzymic activities were based on decreased contents of subunits in these complexes. The multiorganic manifestation of the disorder may result from wide and uneven distribution of abnormal mitochondria that have pleiotropic molecular defects in the energy-transducing complexes among the organs of the patient.
Acidosis, Lactic↗
Lewy bodies in the enteric nervous system in Parkinson's disease.
We systematically studied the intramural nervous system of the alimentary tract in patients with Parkinson's disease and found that Lewy bodies were distributed widely in the Auerbach's and Meissner's plexuses. In the central nervous system, we recognized a striking similarity between the distribution of Lewy bodies and that of monoaminergic neurons. More recently, we have demonstrated that neuronal somata immunoreactive for tyrosine hydroxylase (TH) exist in the Auerbach's and Meissner's plexuses of normal humans. We consider a possible relation between these TH-immunoreactive catecholaminergic neurons to the occurrence of Lewy bodies in the enteric nervous system in Parkinson's disease. The affinity of Lewy bodies to the central and enteric neurons seems to be attributable to an unknown cell-biological characteristic apparently shared by both neurons.
Cytoplasm↗
[The vestibular system and cerebellum in organic mercury intoxication; an otolaryngological and neuropathological investigation on 14 autopsy cases in Niigata].
The vestibular system consisting of vestibular ganglion, nerve and inferior, medial, lateral and superior nuclei and fastigial nucleus, cerebellar vermis, flocculus and hemisphere in 14 autopsy cases of methyl mercury intoxication in Niigata and 12 age-matched controls were examined neuropathologically. The findings were evaluated semiquantitatively, that is, -; normal, +/-; gliosis alone, +; loss of neurons or myelinated fibers less than about 40%, ++; loss of neurons from about 41 to 80%, ; loss of neurons more than about 81%. The results were compared to the records of the equilibrium function of those patients. The examinations on the equilibrium function revealed positive findings in the optokinetic and positional nystagmus, eye tracking, Mann or Stepping test in many of the patients. There were no remarkable histological alterations in the vestibular ganglion and nerve of the patients. Moderate and diffuse gliosis with slight shrinkage of neurons were observed in the vestibular and fastigial nuclei of all the patients. Slight loss of neurons in various vestibular nuclei was examined in only 4 patients. The fastigial nucleus showed no evident loss of neurons. In contrast, the cerebellum showed diffuse loss of Purkinje and granule cells, the degree of which was higher in the vermis than in the hemisphere and the flocculus. In the controls, the vestibular nerve and nuclei showed no remarkable alteration even in eight decade subjects. However, the Purkinje cells in the vermis seemed to have a tendency to decrease in aging. The dysequilibrium in the patient of methyl mercury intoxication did not seem to be correspond to the degeneration of the vestibular ganglion, nerve or nuclei.(ABSTRACT TRUNCATED AT 250 WORDS)
Aged↗
Neuropathology of myoclonus epilepsy associated with ragged-red fibers (Fukuhara's disease).
The post-mortem findings are reported of two patients with myoclonus epilepsy associated with ragged-red fibers (MERRF, Fukuhara's disease), whose clinical findings have been described in detail previously. In addition to the mitochondrial myopathy, both patients had consistent lesions in the central and peripheral nervous systems: (1) degeneration of the dentatorubral and pallidoluysian systems, (2) spinal cord lesions resembling Friedreich's ataxia, and (3) degeneration of the substantia nigra, cerebellar cortex, inferior olivary nucleus, locus ceruleus, gracile and cuneate nuclei, and the pontine tegmentum. The nature and distribution of the lesions are different not only from the other mitochondrial encephalomyopathies but also from other known diseases. It is concluded that MERRF is a disease entity.
Adult↗
A new type of cytoplasmic inclusion in human choroid plexus. A histochemical, ultrastructural and frequency study.
We described a new type of cytoplasmic inclusion in the choroidal epithelial cells of humans. The inclusions usually appeared as brown, round or elongated bodies with or without an inner core, ranging in size from 1.3 to 7.0 micron. Histochemically, they contained polysaccharides, proteins and compound lipids. Ultrastructurally, they were composed of finely granular and filamentous materials, which are densely packed in the inner core and less dense in the outer zone. The frequency study of the inclusions in 197 autopsied patients revealed that their occurrence had no correlation with the age or the disease category. It is concluded that the inclusions are a nonspecific, but peculiar, change of the choroidal epithelial cells, probably representing the morphological expression of a physiological or pathological alteration of the cellular metabolism at the single-cell level.
Choroid Plexus↗
Parkinson's disease: the presence of Lewy bodies in Auerbach's and Meissner's plexuses.
We systematically studied the enteric nervous system of the alimentary tract in seven patients with Parkinson's disease. In all patients, characteristic inclusions histologically and ultrastructurally identical to Lewy bodies were found in Auerbach's and Meissner's plexuses. They were most frequent in the Auerbach's plexus of the lower esophagus. Lewy bodies were found in 8 out of 24 age-matched nonparkinsonian patients. However, they were obviously small in number. These findings clearly indicate that the plexuses are also involved in Parkinson's disease.
Aged↗
Alterations of oligodendrocytes and demyelination in the spinal cord of patients with mitochondrial encephalomyopathy.
The spinal cords of 2 autopsied patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were examined. Histologically, the spinal cords showed a spongy state due to the presence of distended myelinated fibers with enlarged periaxonal spaces. Ultrastructurally, the affected fibers showed extensive microvacuolation of the inner myelin sheath with occasional vesicular changes. The presence of macrophages near the degenerated myelin was a frequent finding. The stripping of myelin lamellae by macrophage was observed, with frequent appearance of denuded axons. Furthermore, prominent morphological changes were observed in oligodendrocytes. These findings indicate that demyelination, probably secondary to the degeneration of oligodendrocytes, occurs in the spinal cord of MELAS.
Adolescent↗
Mitochondrial abnormalities in choroid plexus of Leigh disease.
Morphological study of the choroid plexuses in three patients with Leigh disease revealed a marked increase in the number of mitochondria in almost all of the choroidal epithelial cells. This finding is considered the morphological expression of a biochemical defect in the mitochondrial metabolism underlying Leigh disease, and the probable explanation for increased CSF levels of lactate and pyruvate in this disease.
Brain Diseases, Metabolic↗
Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathologic variants in a family.
We describe a family showing dentatorubral-pallidoluysian atrophy. Three patients appeared through three successive generations and displayed a wide variety of clinical pictures. The male proband with onset in childhood showed progressive myoclonus epilepsy syndrome. The father experienced cerebellar ataxia, myoclonus, and mild dementia starting in middle age; the paternal grandmother had progressive symptoms of cerebellar ataxia, choreiform movements, and dementia, but neither myoclonus nor epilepsy in senescence. Neuropathologic examination of two patients, the proband and the paternal grandmother, revealed combined degeneration of the dentatorubral and pallidoluysian systems and obvious degeneration involving the striatum in the proband and the cerebellar cortex in the grandmother. The present study indicates that this disease can include many clinical and pathologic variants even in the same family.
Adolescent↗
[Mitochondrial angiopathy in the cerebral blood vessels of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes)].
MELAS is a distinctive syndrome manifested by mitochondrial myopathy, encephalopathy, lactic acidosis, and recurrent stroke-like episodes such as seizures, alternating hemiparesis, hemianopsia, or cortical blindness. Pathologically the disorder is characterized by multiple, solitary or continuous foci of necrosis (infarct or softening), varying in size and stage, predominantly involving the bilateral cerebral cortices and to a lesser degree cerebral white matter, basal ganglia, brainstem and cereblum. The distribution of the lesions does not correspond to vascular territories, suggesting that they are not due to usual thrombotic or embolic process. The exact nature and pathogenesis of these lesions with characteristic distribution pattern remain to be elucidated. We studied systematically cerebral blood vessels from two autopsied patients with MELAS by electron microscopy. All the main cerebral arteries including anterior, middle and posterior cerebral, basilar and vertebral arteries were examined at their proximal portions at the cerebral base and at their peripheral portions at the cortical surface as well as within brain parenchyma. We found marked accumulation of mitochondria in the cell bodies of smooth muscle cells and endothelial cells and numerous smooth muscle cells showing degeneration or necrosis, sporadically or in clusters in the tunica media. These abnormalities were most prominent in the walls of pial arterioles and small arteries up to 250 mu in diameter, and less frequent and severe in the larger pial arteries and intracerebral arterioles and small arteries. These vascular changes are different from any of those described in various disorders known to involve the cerebral blood vessels and are thus characteristic to the cerebral blood vessels of MELAS. We think that these peculiar vascular changes called mitochondrial angiopathy are caused by primary mitochondrial dysfunction in the vascular smooth muscle cells and endothelial cells themselves, as is the same in the skeletal and cardiac muscles in this disease, and that they constitute the pathogenic base of the brain lesions with unusual distribution pattern and nature in MELAS.
Acidosis, Lactic↗
[An autopsy case of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episode)].
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Acidosis, Lactic↗
[Two autopsy cases of primary pituitary carcinoma].
We studied two autopsy cases of primary pituitary carcinoma. Case-1. A 45 year old female was admitted on Oct. 4 1978, with a complaint of right homonymous hemianopsia. And diagnosis was pituitary adenoma. Partial removal of pituitary tumor was performed on Oct. 23 1978. She died on Dec. 5 1978 due to bleeding of gastrointestinal tract. Autopsy disclosed a pituitary carcinoma invading the left hypothalamus, mamillary body, optic and V cranial nerves, and mid brain as well as sphenoid bone. No extracranial metastasis was noted. Case-2. A 44 year old female with a history of acromegaly for 6 years was admitted with a complaint of headache on May 8 1976. She was diagnosed as having pituitary adenoma. The subtotal removal of pituitary tumor was performed on May 21 1976 and followed by 4500 rad irradiation. At this time, pathological diagnosis was eosinophilic adenoma. Seven years later, she complained of progressive right hearing disturbance, dysarthria and ataxic gait 1983. The second subtotal removal of pituitary tumor was performed with a diagnosis of recurrence of pituitary adenoma on Oct. 7 1983. After the operation, she complicated sepsis and died on Jan. 14 1984. An autopsy disclosed a pituitary carcinoma from residual pituitary gland, continuously extending to the subarachnoid space of the pons, and invading right cerebello-pontine angle and cerebellum. The histological examination revealed pituitary carcinoma with high pleomorphism and glioblastoma multiform-like feature were within the tumor.(ABSTRACT TRUNCATED AT 250 WORDS)
Adenoma↗