Filter by keywords:



Filtering documents. Please wait...

1/6. X-linked olivopontocerebellar atrophy.

    We present a kindred with a relatively pure cerebellar degeneration that demonstrates X-linked recessive inheritance. The unique clinical picture of affected patients in our kindred is characterized by an infantile onset of ataxia; very slow rate of progression; normal strength, reflexes, and sensation; and cerebellar degeneration with involvement of the olive and pons demonstrated by neuroimaging techniques. The distinction between this and other reported olivopontocerebellar degenerations is made on the basis of the clinical features and mode of inheritance. It is not clear if the distinct clinical pattern in this kindred represents variable expression of a previously reported condition, allelic variance of previously reported kindreds, or a separate clinical entity. Molecular analysis, currently underway, may help settle the issue.
- - - - - - - - - -
ranking = 1
keywords = olive
(Clic here for more details about this article)

2/6. Neocerebellar hypoplasia with systemic combined olivo-ponto-dentatal degeneration in a 9-day-old baby: contribution to the problem of relations between malformation and systemic degeneration in early life.

    Three different cerebral alterations, apparently formed consecutively, were observed in a 9-day-old baby. Marked cortico-neocerebellar hypoplasia was seen in a relatively well-developed paleocortex. Its teratological stage was apparently the 3rd fetal month. Almost total nerve cell loss and marked proliferation of protoplasmic and fibrous astrocytes were found in the nuclei pontis and inferior olive. Perihypoglossal and pararaphal nuclei, which are related to the cerebellum, were also affected. This degenerative process must have resulted from neuronal deprivation or inactivity, as the pertinent cortico-cerebellar area was hypoplastic, and therefore any neuronal imput was impossible (olivo-ponto-dentatal degeneration due to cortico-cerebellar hypoplasia). Massive symmetrical necrosis in the cerebral white and grey matter, basal ganglia, midbrain and bulbus, is interpreted as hypoxic damage due to perinatal convulsive attacks and cessation of respiration.
- - - - - - - - - -
ranking = 1
keywords = olive
(Clic here for more details about this article)

3/6. Neuropathology of late cortical cerebellar atrophy in japan: distribution of cerebellar change on an autopsy case and review of Japanese cases.

    We report a Japanese autopsy case of late cortical cerebellar atrophy. The patient had showed clinically transient remission during thyrotropin-releasing hormone therapy. Our case suggests that thyrotropin-releasing hormone therapy is worth trying as a treatment of late cortical cerebellar atrophy. Neuropathological examination showed diffuse cerebellar cortical lesions and absence of neuronal loss in the dorsomedial part of the inferior olives. We studied qualitatively the detailed distribution of the cerebellar cortical lesions in 6 sections of the right cerebellum. The cerebellar lesions were more conspicuous in the most lateral hemisphere than in the vermis. We also reviewed 7 Japanese autopsy cases of late cortical cerebellar atrophy.
- - - - - - - - - -
ranking = 1
keywords = olive
(Clic here for more details about this article)

4/6. Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.

    Autosomal dominant cerebellar ataxia with progressive macular degeneration is caused by a CAG/glutamine repeat expansion in the SCA7 gene/protein. Neuronal intranuclear inclusions were detected in the brain of an early onset SCA7 case with the 1C2 antibody directed against an expanded polyglutamine domain. Nuclear inclusions were most frequent in the inferior olivary complex, a site of severe neuronal loss in SCA7. They were also observed in other brain regions, including the cerebral cortex, not considered to be affected in the disease. Using confocal microscopy we showed that some inclusions were ubiquitinated, but to varying degrees, ranging from <1% in the cerebral cortex to 60% in the inferior olive. In addition, we also observed cytoplasmic staining using the 1C2 antibody, particularly in the supramarginal gyrus, the hippocampus, the thalamus, the lateral geniculate body and the pontine nuclei. These data confirm that the presence of intranuclear inclusions in neurons is a common characteristic of disorders caused by CAG/polyglutamine expansions, but unlike what has been reported for Huntington's disease, SCA1 and SCA3/MJD, in SCA7 the inclusions were not restricted to the sites of severe neuronal loss.
- - - - - - - - - -
ranking = 1
keywords = olive
(Clic here for more details about this article)

5/6. A clinical, genetic, neuropathological study in a Japanese family with SCA 6 and a review of Japanese autopsy cases of autosomal dominant cortical cerebellar atrophy.

    This report concerns a Japanese family with genetically confirmed SCA 6, including an autopsy case, and a review of Japanese autopsy cases of autosomal dominant cortical cerebellar atrophy (ADCCA). The proband (Case 1) was a Japanese woman. She developed gait disturbance at age 62. The father and younger sister (Case 2) had the same disorder. She died at age 67 due to subarachnoid hemorrhage. Neuropathological examination revealed severe loss of purkinje cells in the cerebellum, prominently in the dorsal vermis, and absence of neuronal loss in the inferior olives. Molecular genetic study showed the CAG-repeat expansion of SCA 6 gene. The younger sister (Case 2) developed gait disturbance at age 62. Neurological examination at age 66 revealed cerebellar signs without sensory disturbance. neuroimaging at this time showed cerebellar atrophy, prominently in the vermis. She died of multiple myeloma at age 66. A neuropathological review of Japanese autopsy cases of ADCCA showed that there are two patterns in the distribution of cerebellar cortical lesions of Japanese patients with ADCCA. The distribution of cerebellar cortical lesions in genetically confirmed Japanese patients with SCA 6 is more prominent in the vermis than in the hemisphere.
- - - - - - - - - -
ranking = 1
keywords = olive
(Clic here for more details about this article)

6/6. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features.

    Infantile onset spinocerebellar ataxia (IOSCA, MIM 271245) is a recessively inherited, progressive neurological disease, which we have described in 19 Finnish patients. The clinical symptoms of IOSCA include ataxia, athetosis, hypotonia, hearing deficit, ophthalmoplegia, sensory neuropathy, female hypogonadism, and epilepsy as a late manifestation. We have mapped the IOSCA locus to 10q24. In our two autopsy cases of IOSCA, the neuropathological findings were almost uniform. The cerebral hemispheres were quite well preserved, but the brain stem and the cerebellum were moderately atrophic. The most severe atrophic changes were seen in the spinal cord: in the dorsal roots, the posterior columns and the posterior spinocerebellar tracts. There was a severe neuronal loss in the dorsal nucleus (Clarke's column) of both cases and slight atrophy of the intermediolateral column in one case. The cerebellar peduncles, the inferior olives, the accessory cuneate nuclei and especially the dentate nuclei were atrophic and gliotic. The eighth cranial nerve and nucleus were atrophic. The ventral pontine nuclei and transverse fibers were slightly affected. Tegmental nuclei and tracts, especially sensory structures, were more severely affected. In mesencephalon, there was atrophy of the oculomotor nuclear complex and periaqueductal gray matter. The cerebellar cortex showed patchy atrophy. Degenerative changes were seen in dorsal root ganglia, and there was a severe axonal loss in the sural nerve. The neuropathological picture of IOSCA thus seems close to that reported in Friedreich's ataxia, another recessively inherited usually childhood-onset ataxia.
- - - - - - - - - -
ranking = 1
keywords = olive
(Clic here for more details about this article)


Leave a message about 'Spinocerebellar Degenerations'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.