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International Review of Neurobiology 1997This chapter analyzes the neuropsychological deficits in inherited cerebellar diseases and compares their symptomatology with animal models in which the exact anatomical... (Review)
Review
This chapter analyzes the neuropsychological deficits in inherited cerebellar diseases and compares their symptomatology with animal models in which the exact anatomical localization of degeneration is known and limited to the cerebellum. Both animal and human data suggest that cerebellar cortical atrophy affects functions of the frontal lobe system. Olivopontocerebellar atrophy is genetically and clinically in homogeneous. The dementia syndrome that occurs in a proportion of patients does not seem to be linked with cerebellar dysfunction. Patients suffering from Friedreich's disease have been described as exhibiting cognitive slowing and deficits in spatial tasks. Because other structures are more prominently involved than the cerebellum in this disease, other pathoanatomical correlates may explain the symptomatology.
Topics: Animals; Atrophy; Cerebellar Diseases; Cerebellum; Disease Models, Animal; Humans; Myoclonus; Neuropsychological Tests; Olivopontocerebellar Atrophies
PubMed: 9378602
DOI: 10.1016/s0074-7742(08)60364-5 -
Annals of Neurology Dec 1996
Topics: Aged; Atrophy; Autonomic Nervous System Diseases; Basal Ganglia Diseases; Brain; Humans; Inclusion Bodies; Middle Aged; Olivopontocerebellar Atrophies
PubMed: 9007105
DOI: 10.1002/ana.410400622 -
Annals of Neurology Sep 1988We compared the severity of motor dysfunction with local cerebral metabolic rates for glucose (lCMRGlc) and the degree of tissue atrophy in 30 patients with...
We compared the severity of motor dysfunction with local cerebral metabolic rates for glucose (lCMRGlc) and the degree of tissue atrophy in 30 patients with olivopontocerebellar atrophy (OPCA). We devised a scale to quantitate the degree of ataxia in the neurological examinations. lCMRGlc was measured with 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography (PET). Tissue atrophy was assessed by visual rating of computed tomographic scans. PET studies revealed marked hypometabolism in the cerebellar vermis, cerebellar hemispheres, and brainstem of OPCA patients compared with 30 control subjects. A significant correlation was found between severity of motor impairment and lCMRGlc within the cerebellar vermis, both cerebellar hemispheres, and the brainstem. A significant but weaker relationship was noted between the degree of tissue atrophy in these regions and clinical severity. Partial correlation analysis revealed that motor dysfunction in OPCA correlated more strongly with lCMRGlc than with the amount of tissue atrophy. These results suggest that the clinical manifestations of OPCA are more closely related to the metabolic state of the tissue than to the structural changes in the cerebellum.
Topics: Adult; Aged; Brain; Female; Functional Laterality; Humans; Male; Middle Aged; Motor Activity; Olivopontocerebellar Atrophies; Organ Specificity; Psychomotor Disorders; Reference Values; Spinocerebellar Degenerations; Tomography, Emission-Computed
PubMed: 3265863
DOI: 10.1002/ana.410240310 -
Virchows Archiv. A, Pathological... 1991Nine cases of sporadic olivopontocerebellar atrophy [Déjérine-Thomas type, multisystemic atrophy (MSA)] were examined histologically and electron microscopically with...
Nine cases of sporadic olivopontocerebellar atrophy [Déjérine-Thomas type, multisystemic atrophy (MSA)] were examined histologically and electron microscopically with special reference to the corticopontine tract. Five of nine cases showed degeneration of the myelinated nerve fibres in this tract. More severe degeneration of the fibres at the level of the pons than the crus cerebri indicates that degeneration of the fibres may start axodistally. Electron microscopy revealed selective involvement of large fibres in olivopontocerebellar atrophy, in contrast to unselective axonal atrophy in dentatorubropallidoluysian atrophy. The problem whether the degeneration of the tract is primary or secondary due to the loss of the pontine neurons remains open. We believe the former to be most likely. Degeneration of the corticopontine fibres should be added to the list of neuropathological findings in sporadic olivopontocerebellar atrophy.
Topics: Adult; Aged; Cerebral Cortex; Female; Humans; Male; Microscopy, Electron; Middle Aged; Nerve Degeneration; Nerve Fibers; Olivopontocerebellar Atrophies; Pons
PubMed: 1899961
DOI: 10.1007/BF01600284 -
Rinsho Shinkeigaku = Clinical Neurology Feb 1990Clinical, radiological and manometric studies on thirteen patients with olivopontocerebellar atrophy were performed in order to investigate the characteristics of...
Clinical, radiological and manometric studies on thirteen patients with olivopontocerebellar atrophy were performed in order to investigate the characteristics of dysphagia. As a clinical study, a detailed history of dysphagia was taken to distinguish two types of dysphagia, that is to say swallowing disturbance in a narrow sense and passage disturbance. In the radiological study, each phase of swallowing was observed by X-rays with contrast medium (Dionosil). In the manometric study, intraluminal resting pressure in the esophagus and pressure of esophageal contraction after swallowing were measured. The results were as follows: Eight patients had the sensation of swallowing disturbance in a narrow sense and five patients has the feeling of passage disturbance. In X-ray studies four patients had pooling in piriformis sinus and six patients had slight dilatation of the lower esophagus. In manometric studies, six patients had low intraluminal resting pressure of the upper esophageal sphincter, but almost all patients had normal intraluminal resting pressure throughout the esophagus and in the lower esophageal sphincter. Two patients, who had suffered for five and seven years, had loss of both negative and positive wave in the upper esophageal sphincter after swallowing. Another three patients, who had suffered for two, six and seven years, respectively had loss of negative wave in the upper esophageal sphincter after swallowing. Regarding peristaltic wave, eight patients had low amplitude of the wave. Two patients, who had suffered for five and six years, had diphasic shape of the wave. One patient, who had suffered for nine years, had synchronous wave. Nine patients had loss of negative wave in the lower esophageal sphincter.(ABSTRACT TRUNCATED AT 250 WORDS)
Topics: Adult; Aged; Contrast Media; Deglutition Disorders; Esophagus; Female; Humans; Male; Manometry; Middle Aged; Olivopontocerebellar Atrophies; Peristalsis; Pressure; Radiography; Spinocerebellar Degenerations
PubMed: 2350925
DOI: No ID Found -
Annals of Neurology Aug 1994We used positron emission tomography with [18F]fluorodeoxyglucose to study local cerebral metabolic rates for glucose (ICMRglc) in patients with multiple system atrophy...
We used positron emission tomography with [18F]fluorodeoxyglucose to study local cerebral metabolic rates for glucose (ICMRglc) in patients with multiple system atrophy (MSA), sporadic olivopontocerebellar atrophy (sOPCA), and dominantly inherited olivopontocerebellar atrophy (dOPCA) in comparison with normal control subjects. IN MSA, absolute lCMRglc was significantly decreased in the brainstem, cerebellum, putamen, thalamus, and cerebral cortex. In sOPCA, absolute lCMRglc was significantly decreased in the brainstem, cerebellum, putamen, thalamus, and cerebral cortex. In dOPCA, absolute lCMRglc was significantly decreased in the brainstem and cerebellum but not in the other structures. Examination of lCMRglc normalized to the cerebral cortex in comparison with normal controls revealed in MSA significant decreases in the brainstem, cerebellum, and putamen but, in both sOPCA and dOPCA, significant decreases only in the brainstem and cerebellum. The findings indicate that these three disorders all show a marked decrease of lCMRglc in the brainstem and cerebellum but differ in the degree of hypometabolism in forebrain and cerebral cortical structures. The results are consistent with the possibility that, in many cases, sOPCA will evolve into MSA. Moreover, positron emission tomography may provide helpful diagnostic information in these neurodegenerative diseases.
Topics: Adult; Atrophy; Autonomic Nervous System Diseases; Basal Ganglia Diseases; Brain; Cerebellar Diseases; Female; Glucose; Humans; Male; Middle Aged; Olivopontocerebellar Atrophies; Tomography, Emission-Computed
PubMed: 8053652
DOI: 10.1002/ana.410360208 -
Journal of the Formosan Medical... Jun 1993The many conventional classifications of cerebellar degeneration are usually based on information obtained in post-mortem examinations. On the other hand, neuroimagings,... (Review)
Review
The many conventional classifications of cerebellar degeneration are usually based on information obtained in post-mortem examinations. On the other hand, neuroimagings, particularly with follow-up imaging studies, can demonstrate morphologic changes at various stages of disease evolution in living patients, thus providing a better understanding and evaluation of the disease processes, leading towards an earlier and more accurate diagnosis. Obviously, some patients require determination of a biochemical marker or markers in the final diagnosis. In Friedreich's ataxia, major changes are severe atrophy of the spinal cord with flattening of its posterior aspect. The medulla oblongata becomes smaller and the vermian and paravermian structures adjacent to the primary fissures become mildly atrophic. In hexosaminidase deficiency, there is pancerebellar atrophy with marked dilatation of the fourth ventricle. Cerebellar atrophy is more marked in the hemispheres than in the vermis, while the brain stem shows little change. The frontal and parietal sulci are usually slightly prominent. In cerebello-olivary atrophy (also called cortical cerebellar degeneration), there is atrophy of the superior vermis, especially the declive, folium and tuber. There is also atrophy of the lateral part of the cerebellar hemispheres, giving an appearance of the "fish-mouth deformity" on parasagittal sections. The fourth ventricle may be greatly enlarged. In dominant olivopontocerebellar atrophy (OPCA), the Menzel type is characterized by cerebellar atrophy of the "fine comb" type with the greatest involvement in the anterior lobe and in the upper part of the middle lobe. The hemispheres are more involved than the vermis. The brainstem, especially the pons, and the brachia pontis are also atrophic. In severe cases, the changes are very marked. Although the fourth ventricle is large, it lacks the ballooning characteristic of OPCA with slow saccades. In OPCA with slow saccades with or without retinal degeneration, the most pathognomonic features are "ballooning of the fourth ventricle" due to excavation of its floor and the "molar tooth deformity" secondary to severe atrophy of the pons, brachia pontis and conjunctiva. The cerebellum usually shows pancerebellar atrophy of the "fine comb" type. In recessive OPCA, cerebellar atrophy is most marked in the lateral part of the cerebellar hemispheres with "fish mouth deformity" secondary to drop-out of the tertiary and secondary folia from the primary folia. This feature is less marked in cases of atypical cerebello-olivary atrophy. In late-onset sporadic OPCA with autonomic failure, the cerebellum, especially its lateral portions and the brainstem, are variably involved in the atrophic processes, ranging from very mild to severe involvement.(ABSTRACT TRUNCATED AT 250 WORDS)
Topics: Adult; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Olivopontocerebellar Atrophies; Spinocerebellar Degenerations; Tomography, X-Ray Computed
PubMed: 8106035
DOI: No ID Found -
Acta Neuropathologica 1991We described cytoplasmic inclusions in glial cells in 18 patients with olivopontocerebellar atrophy (OPCA) (multiple system atrophy, MSA). These glial inclusions showed...
We described cytoplasmic inclusions in glial cells in 18 patients with olivopontocerebellar atrophy (OPCA) (multiple system atrophy, MSA). These glial inclusions showed intense argyrophilia with modified Bielschowsky's and Bodian's silver impregnation techniques, and were observed in the pons, cerebellar white matter, midbrain, medulla oblongata and basal ganglia, as well as cerebral white matter and spinal cord. None of the 54 control cases had glial argyrophilic inclusions. Immunohistochemically, these inclusions were intensely labeled by anti-ubiquitin antibody. Some of them reacted with an antibody to Rosenthal fiber (RF) protein. The cytoplasm of ubiquitinated inclusion-bearing glial cells was immunostained by anti-Leu-7 antibody, but not by anti-GFAP antibody. Ultrastructurally, the glial inclusions were composed primarily of approximately 24- to 40-nm fibrils, which were coated with osmiophilic granular material along their length in longitudinal section. These fibrils appeared as annuli in cross section. Often, a central granule approximately 5 nm in diameter was seen in the lucent lumen of a cross-sectioned fibril. The granule-coated fibrils were not seen in the glial filament-containing astrocytes. Electron microscopic examination of silver-impregnated specimens revealed that the granule-coated fibrils had strong affinity for silver. Immunoelectron microscopy using the indirect immunoperoxidase techniques with antibodies to ubiquitin and RF protein revealed that the electron-dense reaction products respective to both were located on constituents of glial inclusions. Our observation that Leu-7-positive glial cells, mainly oligodendroglial cells, had argyrophilic ubiquitinated inclusions may be of significance for the evaluation of the pathology of OPCA(MSA).
Topics: Adult; Aged; Antigens, Differentiation; CD57 Antigens; Female; Humans; Immunohistochemistry; Inclusion Bodies; Male; Microscopy, Electron; Microscopy, Immunoelectron; Middle Aged; Neuroglia; Olivopontocerebellar Atrophies; Silver; Staining and Labeling; Ubiquitins
PubMed: 1723828
DOI: 10.1007/BF00293383 -
Journal of the Neurological Sciences Jun 1998Apolipoprotein E (apo E) epsilon4 is a risk factor for sporadic and late-onset familial Alzheimer's disease, but it is not well known whether the apo E is associated...
Apolipoprotein E (apo E) epsilon4 is a risk factor for sporadic and late-onset familial Alzheimer's disease, but it is not well known whether the apo E is associated with spinocerebellar degeneration. We studied the frequency of apo E allele in 59 olivopontocerebellar atrophy (OPCA) patients, including 13 pathologically confirmed cases. The distribution of the apo E allele frequency did not differ between OPCA patients and controls. Apo E allele does not influence the development of OPCA.
Topics: Alleles; Apolipoproteins; Apolipoproteins D; Disease Susceptibility; Genotype; Humans; Middle Aged; Nerve Tissue Proteins; Olivopontocerebellar Atrophies
PubMed: 9667788
DOI: 10.1016/s0022-510x(98)00099-9 -
Italian Journal of Neurological Sciences Mar 1992Under the term of olivopontocerebellar atrophy different nosological pictures are grouped, all characterized by showing clinical signs of deficiency of the structures of...
Under the term of olivopontocerebellar atrophy different nosological pictures are grouped, all characterized by showing clinical signs of deficiency of the structures of the pons and of the cerebellum. The diagnosis of olivopontocerebellar atrophy has been made, until now, by clinical criteria while typical anatomopathological changes are found at the autoptic studies. We describe three patients affected by olivopontocerebellar atrophy, of different types and at different stages of disease. In all cases MRI showed a similar and typical picture of atrophy of the olivary eminences of the medulla oblongata resulting in straightening of the angle usually present on the ventral frontier between pons and medulla oblongata. This diagnostic tool demonstrated thus to be of primary relevance yet in the early phases of the disease.
Topics: Aged; Brain; Female; Humans; Magnetic Resonance Imaging; Male; Medulla Oblongata; Middle Aged; Olivary Nucleus; Olivopontocerebellar Atrophies; Pons
PubMed: 1592576
DOI: 10.1007/BF02226964