1/12. syndrome of progressive ataxia and palatal myoclonus: a case report.A 46-year old man presented with progressive cerebellar ataxia for 5 years. physical examination revealed palatal and tongue myoclonus, cerebellar gait, limb ataxia and spasticity of the lower extremities. The imaging studies including CT-scan and MRI of the brain revealed progressive pancerebellar atrophy and bilateral hypertrophic degeneration of inferior olives. The clinical course was slowly progressive. Various medications included anticonvulsants, benzodiazepines and antispasticity failed to abolish the abnormal palatal movement and ataxic syndrome. The syndrome of progressive ataxia and palatal myoclonus is a rare and unique neurodegenerative syndrome. The pathogenesis and treatment are still unknown.- - - - - - - - - - ranking = 1keywords = olive (Clic here for more details about this article) |
2/12. Autosomal dominant pure cerebellar ataxia. Neurological and genetic study.A family with late-onset autosomal dominant pure cerebellar ataxia was studied both neurologically and genetically. neuroimaging and electrophysiological results were in agreement with the clinical evidence showing involvement of the cerebellar system only, even many years after onset. No atrophy of inferior olives was observed by magnetic resonance imaging, while cerebellar atrophy was extremely marked. A very slow disease progression was observed in all patients. The disease can be differentiated from autosomal dominant olivo-ponto-cerebellar atrophies, and in particular from spinocerebellar ataxia type 1 mapping on chromosome 6p, which shows an early multisystemic involvement and a more rapid progression toward inability. A genetic study of the family with the 6p dna marker D6S89 closely linked to the spinocerebellar ataxia type 1 locus was performed. Results showed significant exclusion of a linkage between the disease and the marker within a distance of 8.5% recombination, indicating that genetic heterogeneity underlies phenotypic differences.- - - - - - - - - - ranking = 1keywords = olive (Clic here for more details about this article) |
3/12. cerebellar ataxia and hypogonadism. A clinicopathological report.A female showed primary amenorrhea and slowly progressive ataxia of limbs and gait, that had started when she was 18 years old. Endocrine data were consistent with hypogonadotropic hypogonadism. She died at 35 years of age. Post mortem examination showed mucinous carcinoma of the lung, hypoplastic uterus, atrophic ovaries. The cerebellum was small, with the atrophy most marked in the vermis, and the pons was shrinked. There was almost complete Purkinje cell disappearance and neuronal loss in the granular layer and the inferior olives.- - - - - - - - - - ranking = 1keywords = olive (Clic here for more details about this article) |
4/12. Degeneration of the thalamus and inferior olives associated with spongiform encephalopathy of the cerebral cortex.We describe a 37-year-old man with a 30-month history of progressive dementia, myoclonus and prominent ataxia with the additional clinical features of dysautonomia and delirious psychomotor excitement and with relatively preserved verbal responses. The pathological changes include 1) severe neuronal loss and gliosis without spongiform change of the thalamus and inferior olives associated with gliosis of the midbrain tegmentum, and demyelination and gliosis of the central tegmental tract, olivo-cerebellar fibers and spino-olivary tract, and 2) mild spongiform encephalopathy of the cerebral cortex. Although the latter implies that the present case may be an example of the rare thalamic form of Creutzfeld-Jakob disease, the preferential and severe involvement of the thalamus and inferior olives without spongiform change as well as the clinical features are quite reminiscent of primary thalamic degeneration [Stern 1939]. This case draws further attention to the relationship between spongiform encephalopathy and degeneration without spongiform change of the thalamus and olivary system.- - - - - - - - - - ranking = 6keywords = olive (Clic here for more details about this article) |
5/12. Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: a new autosomal dominant disorder.We report a family with branchial myoclonus, spastic paraparesis, and cerebellar ataxia in which six members were affected in two generations and the inheritance appeared to be autosomal dominant. Age at onset ranged from 40 to 50 years. Rhythmic myoclonus involving the palate, pharynx, larynx, and face was followed by truncal ataxia and spastic paraparesis in most patients. CT and MRI revealed mild atrophy of the cerebral and cerebellar cortex and severe atrophy of the medulla and spinal cord. The pons appeared normal and the olives not hypertrophic. CSF studies revealed severe reduction of the serotonin metabolite 5-hydroxyindoleacetic acid. Treatment with 5-hydroxytryptophan and carbidopa at highest tolerated dose mildly improved ataxia but did not modify the myoclonus. Treatment with anticholinergics, benzodiazepines, phenytoin, valproate, carbamazepine, and baclofen was unsuccessful. The clinical symptoms were progressive, leading to death or severe disability 5 to 10 years after the onset of the disease.- - - - - - - - - - ranking = 1keywords = olive (Clic here for more details about this article) |
6/12. Infantile X-linked ataxia and deafness: a new clinicopathologic entity?We describe an X-linked disorder of the CNS, characterized by onset, in infancy, of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropias, and optic atrophy, and by a progressive course leading to death in childhood. Pathologically, neuron loss and gliosis of the dentate nucleus and inferior olive are conspicuous; involvement of the cerebellar cortex is less prominent. In the proband, the red nucleus, dorsal motor nucleus of the vagus, and central auditory pathways were severely affected. The mother of the proband, now 33, has self-limited episodes of ataxia, and cerebellar atrophy for which no other cause is apparent. The unique heredity, pathology, and clinical picture distinguish this entity from previously described inherited or metabolic ataxias.- - - - - - - - - - ranking = 1keywords = olive (Clic here for more details about this article) |
7/12. adrenoleukodystrophy with olivopontocerebellar atrophy-like lesions.In a 46-year-old Japanese man with chronic psychiatric and neurologic symptoms, autopsy revealed enlarged adrenal cortical cells with trilamellar cytoplasmic inclusions and demyelinating lesions, marked in the fronto-parietal lobes and in the cerebellar hemispheres and corresponding to the pathology of adrenoleukodystrophy (ALD). Unusual gray matter lesions were found in the thalamus, cerebellar cortex, inferior olive and pontine nucleus, and the latter three lesions resembled those seen in cases of olivopontocerebellar atrophy (OPCA). These lesions are attributed to secondary changes due to disruption of the thalamo-cortical, cerebro-ponto-cerebellar and olivo-cerebellar connections.- - - - - - - - - - ranking = 1keywords = olive (Clic here for more details about this article) |
8/12. Hereditary multisystemic degeneration with unusual combination of cerebellipetal, dentato-rubral, and nigro-subthalamo-pallidal degenerations.An autopsy case of a 51-year-old housewife with dominantly inherited ataxia is reported. Pathologic examination revealed an unusual combination of systemic degenerations: spinocerebellar tracts, pontine basis and middle cerebellar peduncles, dentato-rubral and nigro-subthalamo-pallidal systems, upper and lower motor neurons, ascending sensory system, and optic tracts. The inferior olive and cerebellar cortex showed only a slight change. The combination of the dentato-rubral with nigro-subthalamo-pallidal degenerations in a case with cerebellipetal systemic degeneration was particularly striking. Furthermore, combined degeneration of the ocular motor nuclei, vestibular nuclear group, perihypoglossal nuclei, fastigial nucleus, medial longitudinal fasciculus, and vestibulospinal tracts occurred. According to recent experimental results, these lesions were restricted precisely to the anatomophysiologically interrelated system for the control of eye movement. The present case is considered an example of systemic degeneration as a pathologic basis for ophthalmoplegia.- - - - - - - - - - ranking = 1keywords = olive (Clic here for more details about this article) |
9/12. Autosomal recessive spino-olivo-cerebellar degeneration without ataxia.Five adult siblings from a sibship of ten suffering from an external ophthalmoplegia with a spastic paraplegia are reported. In addition, optic nerve atrophy was present in three of the patients and dementia in two; extrapyramidal signs and cerebellar ataxia were found only in one patient. Contrary to earlier studies of patients with comparable neurological signs the pattern of inheritance was autosomal recessive. Neuropathological investigation of the index case, who had never shown ataxia, nevertheless showed demyelination of the spinocerebellar and the olivocerebellar pathways, and also a severe loss of purkinje cells, of cells in Clarke's column and in the inferior olives. The dentate nucleus was severely gliotic but showed no cell loss. Earlier neuropathological investigations of this disorder, but with an autosomal dominant heredity, were incomplete. It is concluded that the five siblings of this family have a unique autosomal recessive disorder, which should be considered a distinct entity.- - - - - - - - - - ranking = 1keywords = olive (Clic here for more details about this article) |
10/12. Joseph disease: a multisystem degenerative disorder of the nervous system.We studied Joseph disease clinically and pathologically in two patients of Portuguese ancestry, but from different families. We found involvement of spinocerebellar tracts, Clarke's column, anterior horn cells, motor cranial nerve nuclei, and substantia nigra. One patient also had pallidosubthalamic and pontocerebellar degeneration with normal inferior olives. The second patient, a Joseph family member, had nerve cell loss in the subthalamic nucleus. The neostriatum appeared normal in both cases. The pigmented nuclei contained a few lewy bodies. The almost identical pathology in two families support the hypothesis that Joseph disease is a genetic entity.- - - - - - - - - - ranking = 1keywords = olive (Clic here for more details about this article) |
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