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Progress in Brain Research 1992
Review
Topics: Aged; Atrophy; Corpus Striatum; Cytoplasm; Dementia; Female; Humans; Neurons; Oligodendroglia; Olivopontocerebellar Atrophies; Parkinson Disease, Secondary; Shy-Drager Syndrome; Substantia Nigra
PubMed: 1287727
DOI: 10.1016/s0079-6123(08)61769-0 -
Acta Neuropathologica Oct 1998We report two sisters with congenital olivopontocerebellar atrophy, including immunohistochemical studies of autopsy brain tissue. Both cases showed microcephaly with...
We report two sisters with congenital olivopontocerebellar atrophy, including immunohistochemical studies of autopsy brain tissue. Both cases showed microcephaly with disproportionately marked hypoplasia of the posterior fossa structures including pons, inferior olivary nuclei, and cerebellum. Microscopically, the pons was atrophic with near total loss of pontine nuclei and transverse pontocerebellar tracts (inferior and middle cerebellar peduncles). The medulla showed absent inferior olivary and arcuate nuclei. The cerebellum showed hypoplasia with rudimentary dentate nuclei, profound loss of Purkinje cells and external granule cell layer, a sparse internal granule cell layer of the entire dorsal vermis and the dorsal portions of the lateral folia, as well as markedly reduced underlying axon fibers in the white matter with marked astrogliosis. These features were highlighted by immunohistochemical study using antibodies against Purkinje cell epitopes, synaptophysin, neurofilament, glial fibrillary acidic protein, and tuberin. The cerebral hemispheres were unremarkable. Our cases are characterized by a pattern of diffuse posterior cerebellar involvement that has rarely been described in previous reports. An autosomal recessive pattern of inheritance is suggested. The abnormalities may result from antenatal degeneration or atrophy of neurons in the involved sites rather than hypoplasia or developmental arrest starting in the second and third month of late embryonic life.
Topics: Biomarkers; Cerebellum; Fatal Outcome; Female; Humans; Immunohistochemistry; Infant, Newborn; Microcephaly; Olivary Nucleus; Olivopontocerebellar Atrophies; Pons; Purkinje Cells; Repressor Proteins; Tuberous Sclerosis Complex 2 Protein; Tumor Suppressor Proteins
PubMed: 9796994
DOI: 10.1007/s004010050900 -
Annals of Neurology Mar 1988We studied local cerebral metabolic rates for glucose (1CMRglc) with 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography (PET) in 30 patients with...
We studied local cerebral metabolic rates for glucose (1CMRglc) with 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography (PET) in 30 patients with olivopontocerebellar atrophy (OPCA) and 30 age-matched control subjects without neurological disease. The diagnosis of OPCA was based on the history and physical findings and on the exclusion of other causes of cerebellar ataxia by means of laboratory investigations. Computed tomographic scans revealed some degree of atrophy of the cerebellum in most patients with OPCA, and many also had atrophy of the brainstem. PET studies in these patients revealed significant hypometabolism in the cerebellar hemispheres, cerebellar vermis, and brainstem in comparison with the normal control subjects. A significant relationship was found between the degree of atrophy and the level of 1CMRglc in the cerebellum and brainstem. Nevertheless, several patients had minimal atrophy and substantially reduced 1CMRglc, suggesting that atrophy does not fully account for the finding of hypometabolism. 1CMRglc was within normal limits for the thalamus and cerebral cortex. The data suggest that PET/1CMRglc may be useful as a diagnostic test in patients with the adult onset of cerebellar ataxia.
Topics: Adult; Blood Glucose; Brain Stem; Cerebellum; Cerebral Cortex; Deoxyglucose; Energy Metabolism; Female; Fluorodeoxyglucose F18; Humans; Male; Middle Aged; Olivopontocerebellar Atrophies; Spinocerebellar Degenerations; Thalamus; Tomography, Emission-Computed; Tomography, X-Ray Computed
PubMed: 3259853
DOI: 10.1002/ana.410230303 -
Current Opinion in Neurology Dec 1993Argyrophilic cytoplasmic inclusions of oligodendrocytes have been described in cases of multiple system atrophy (olivopontocerebellar atrophy, striatonigral... (Review)
Review
Argyrophilic cytoplasmic inclusions of oligodendrocytes have been described in cases of multiple system atrophy (olivopontocerebellar atrophy, striatonigral degeneration, and Shy-Drager syndrome). The oligodendroglial cytoplasmic inclusions are immunolabeled with antiubiquitin antibodies. Ultrastructurally, they appear as granule-associated filaments. They have not been found in other neurological diseases or in normal brains, and are now considered to be early and specific markers of multiple system atrophy. More recently, similar argyrophilic inclusion bodies have been reported in the cytoplasm of neurons and in both oligodendroglial and neuronal nuclei of multiple system atrophy brains. Neuronal and oligodendroglial cytoplasmic inclusions have identical ultrastructural characteristics, but different antigenic properties. The chemical nature of the inclusions is presently unknown and their significance remains controversial: they could be a primary event in the course of the degenerative process or merely an epiphenomenon of some disordered cytoskeletal metabolism.
Topics: Corpus Striatum; Humans; Inclusion Bodies; Microscopy, Electron; Nerve Degeneration; Neurons; Oligodendroglia; Olivopontocerebellar Atrophies; Shy-Drager Syndrome; Substantia Nigra
PubMed: 8293161
DOI: 10.1097/00019052-199312000-00007 -
Acta Neuropathologica Oct 2007
Review
Topics: Brain; Humans; Olivopontocerebellar Atrophies
PubMed: 17710422
DOI: 10.1007/s00401-007-0282-x -
Acta Neurologica Scandinavica Feb 1995Olivopontocerebellar atrophy (OPCA) is rare in childhood and onset in infancy is uncommon. We encountered 11 consecutive children with clinical and radiological features...
Olivopontocerebellar atrophy (OPCA) is rare in childhood and onset in infancy is uncommon. We encountered 11 consecutive children with clinical and radiological features of OPCA which started in infancy. In addition to cerebellar ataxia, these children also had sensorineural deafness and speech impairment. Of the present cases, 8 were sporadic and the pedigree patterns in 3 (with a sibling also involved) point to an AR inheritance. The CT scan showed varying degrees of cerebellar and pontine atrophy. The underlying genetic and neurochemical substrates of this syndrome await further study.
Topics: Brain Stem; Cerebellum; Cerebral Ventricles; Child; Child, Preschool; Cisterna Magna; Deafness; Female; Humans; Language Development Disorders; Male; Neurologic Examination; Olivopontocerebellar Atrophies; Phenotype; Tomography, X-Ray Computed
PubMed: 7785423
DOI: 10.1111/j.1600-0404.1995.tb00419.x -
Brain : a Journal of Neurology Dec 2004Multiple system atrophy (MSA) has varying clinical (MSA-P versus MSA-C) and pathological [striatonigral degeneration (SND) versus olivopontocerebellar atrophy (OPCA)]...
Multiple system atrophy (MSA) has varying clinical (MSA-P versus MSA-C) and pathological [striatonigral degeneration (SND) versus olivopontocerebellar atrophy (OPCA)] phenotypes. To investigate the spectrum of clinicopathological correlations, we performed a semi-quantitative pathological analysis of 100 MSA cases with well-characterized clinical phenotypes. In 24 areas, chosen from both the striatonigral (StrN) and olivopontocerebellar (OPC) regions, the severity of neuronal cell loss and gliosis as well as the frequency of glial (oligodendroglial) cytoplasmic inclusions (GCIs) and neuronal cytoplasmic inclusions (NCIs) were determined. Clinical information was abstracted from the patients' medical records, and the severity of bradykinesia in the first year of disease onset and in the final stages of disease was graded retrospectively. The degree of levodopa responsiveness and the presence or absence of cerebellar ataxia and autonomic symptoms were also recorded. We report that 34% of the cases were SND- and 17% were OPCA-predominant, while the remainder (49%) had equivalent SND and OPCA pathology. We found a significant correlation between the frequency of GCIs and the severity of neuronal cell loss, and between these pathological changes and disease duration. Our data also suggest that GCIs may have more influence on the OPC than on the StrN pathology. Moreover, we raise the possibility that a rapid process of neuronal cell loss, which is independent of the accumulation of GCIs, occurs in the StrN region in MSA. There was no difference in the frequency of NCIs in the putamen, pontine nucleus and inferior olivary nucleus between the SND and OPCA subtypes of MSA, confirming that this pathological abnormality is not associated with a particular subtype of the disease. In the current large post-mortem series, 10% of the cases had associated Lewy body pathology, suggesting that this is not a primary process in MSA. As might be expected, there was a significant difference in the severity of bradykinesia and the presence of cerebellar signs between the pathological phenotypes: the SND phenotype demonstrates the most severe bradykinesia and the OPCA phenotype the more frequent occurrence of cerebellar signs, confirming that the clinical phenotype is dependent on the distribution of pathology within the basal ganglia and cerebellum. Putaminal involvement correlated with a poor levodopa response in MSA. Our finding that relatively mild involvement of the substantia nigra is associated clinically with manifest parkinsonism, while more advanced cerebellar pathology is required for ataxia, may explain why the parkinsonian presentation is predominant over ataxia in MSA.
Topics: Adult; Age Distribution; Aged; Aged, 80 and over; Cell Death; Female; Humans; Lewy Bodies; Male; Middle Aged; Multiple System Atrophy; Neurons; Olivopontocerebellar Atrophies; Phenotype; Severity of Illness Index; Sex Distribution; Striatonigral Degeneration; Time Factors
PubMed: 15509623
DOI: 10.1093/brain/awh303 -
Journal of the Neurological Sciences Dec 1989Glial cytoplasmic inclusions (GCIs) were demonstrated by silver staining, immunocytochemistry and by electron microscopy in the central nervous system (CNS) of 11...
Glial cytoplasmic inclusions (GCIs) were demonstrated by silver staining, immunocytochemistry and by electron microscopy in the central nervous system (CNS) of 11 patients with various combinations of striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome. Although their configuration in light microscope can sometimes resemble neurofibrillary tangles, their cellular localisation, measurements, ultrastructure, immunocytochemical characteristics and regional distribution all differ from these Alzheimer type changes. The majority of GCIs were localized in the white matter and appeared to be accompanied by an increase in the number of interfascicular oligodendroglial cells and pallor or loss of myelin staining. Our histological, ultrastructural and immunocytochemical findings all indicate that the cells which contain GCIs are oligodendrocytes and the inclusions themselves are composed of tubular structures. The presence of the until now unknown GCIs in all the 11 CNS, but not in age- and sex-matched control brains, indicates that GCI is a cellular change characteristic of multiple system atrophy and the three syndromes are various manifestations of the same disease.
Topics: Adult; Aged; Aged, 80 and over; Autonomic Nervous System Diseases; Corpus Striatum; Female; Humans; Inclusion Bodies; Male; Middle Aged; Neuroglia; Olivopontocerebellar Atrophies; Shy-Drager Syndrome; Spinocerebellar Degenerations; Substantia Nigra
PubMed: 2559165
DOI: 10.1016/0022-510x(89)90219-0 -
Journal of Neurology Sep 1996
Topics: Aged; Female; Humans; Olivopontocerebellar Atrophies; Polysomnography; Respiratory Insufficiency; Respiratory Sounds; Sleep Wake Disorders; Tracheostomy; Vocal Cord Paralysis
PubMed: 8892074
DOI: 10.1007/BF00878669 -
Revista de NeurologiaSpinal muscular atrophy is a frequent neurodegenerative disease in infancy. Nevertheless, its association with olivopontocerebellar hypoplasia is rare.
INTRODUCTION
Spinal muscular atrophy is a frequent neurodegenerative disease in infancy. Nevertheless, its association with olivopontocerebellar hypoplasia is rare.
CASE REPORT
We describe a case displaying clinical symptoms that included respiratory failure, dysmorphias, hypotonia, deep tendon areflexia and respiratory complications, like the cases described in the literature. In the genetic study it was not possible to find the motor neuron gene surviving from the infantile muscular atrophy. The neuropathological disorders found in the necropsy study were olivopontocerebellar hypoplasia with intense neuronal loss (fundamentally from Purkinje cells and from the granular layer of the cerebellum, olivary nuclei and pons), replacement gliosis and degeneration of the motor cells in the anterior horn of the spinal cord. Death occurred due to a respiratory complication in the 11th postnatal month.
CONCLUSIONS
The paper describes the clinical-pathological study and the genetic study of a female patient who died at the age of 11 months after being diagnosed as presumably suffering from Werdnig-Hoffman disease. The autopsy revealed an olivopontocerebellar hypoplasia, which is a morphological trait that is not associated with the above-mentioned entity. The microscopic study revealed extensive areas of gliosis and neuronal loss. We conclude with the diagnosis of spinal muscular atrophy associated with olivopontocerebellar hypoplasia, which is a rare clinical entity with very few case reports and whose genetic defect is still unknown. We also review the extant literature related to this case.
Topics: Abnormalities, Multiple; Autopsy; Cerebral Cortex; Fatal Outcome; Female; Gestational Age; Humans; Infant; Infant, Newborn; Infant, Premature; Olivopontocerebellar Atrophies; Pregnancy; Spinal Muscular Atrophies of Childhood
PubMed: 15712162
DOI: No ID Found