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Results for “CEREBELLAR DISEASES”

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At least 307 records · Page 17Linked to original sources
PubMed1991

Fetal tissue grafts for cerebellar atrophy.

It has been shown in a rat model that surgical injury to the right cerebellum with resultant ataxia can be corrected by implantation of embryonic cerebellar tissue into the injured cerebellum. Histological examinations of the cerebellar tissue revealed that mitoses of Purkinje cells of the implanted group were increased substantially over the control group's. The surgically induced ataxia resolved more rapidly in the cerebellar implant group than the control group. Based on this experimental data, a similar technique was applied in 6 patients with severe hereditary cerebellar degenerative ataxia. The preliminary results in these 6 surgically implanted patients with heredity degenerative cerebellar disease show 2 with marked improvement, 3 with moderate improvement and 1 with improvement for 2 months followed by mild deterioration but still better than presurgery. We also studied immunological markers in the blood and CSF in an attempt to determine whether rejection of implanted tissue occurs.

Adult↗
PubMed2005

Internuclear ophthalmoparesis in episodic ataxia type 2.

Two patients sharing a novel mutation of the CACNA1A gene for P/Q calcium channels showed significant slowing of adducting saccades compared with normal subjects or patients with cerebellar disease. Internuclear ophthalmoparesis (INO) was clinically evident in one. While these findings might be specific to this mutation, INO in our patients with episodic ataxia type 2 suggested involvement outside the cerebellum, either in the brain-stem internuclear pathway or at the neuromuscular junction.

Adult↗
PubMed1998

Smooth pursuit eye movements and otolith-ocular responses are differently impaired in cerebellar ataxia.

Horizontal and vertical smooth pursuit was compared with otolith-ocular responses in 11 patients with cerebellar ataxia and 21 normal subjects using three-dimensional magnetic search coil eye movement recordings. Otolith-ocular responses were investigated during off-vertical axis rotation. This stimulus induces nystagmus consisting of the exponentially decaying canalicular response, and an eye-velocity modulation and offset which arise from the excitation of the otoliths by the gravity vector, which lasts as long as the rotation continues. Otolith-ocular reflexes are intimately interrelated with visual tracking when real targets are viewed during linear motion. The responses of both the translational vestibulo-ocular reflex and the pursuit system have been shown to be linearly dependent on the inverse of the viewing distance, so that a common central pathway for the two systems has been suggested, probably travelling through the cerebellum. Thus, the aim of the study was to evaluate to what extent these reflexes are disturbed in cerebellar disease. The results confirm the earlier notion that in normal subjects pursuit performance is better for horizontal than for vertical tracking, and that it is better for upward than for downward tracking. This pattern is also found in patients. In addition, smooth pursuit performance is clearly degraded in patients, but the modulation of eye-velocity during off-vertical axis rotation is enhanced. Since the amount of this enhancement does not correlate with the amount of pursuit impairment, degradation of smooth pursuit and pathological enhancement of otolith-ocular responses seem to be independent effects of cerebellar degeneration. Thus, the increase in the otolith-ocular response in patients cannot be attributed to adaptational mechanisms trying to overcome the smooth pursuit deficiency; it is more likely to represent pathological disinhibition of otolith derived responses. The absence of compensatory eye-velocity offset during off-vertical axis rotation may reflect the fact that in patients the otolith signals are not utilized in computations thought to be important for spatial orientation mechanisms arising from the interaction of vestibular, visual and somatosensory signals.

Adult↗
PubMed2006

[Pathology of the cerebellopontine angle].

The pathology of the cistern of the cerebellopontine angle is primarily that of the nervous and vascular structures that it contains and of the meninges that line it. Knowledge of its anatomy makes it possible to understand and search for a rare pathology, the hemifacial spasm, due to a conflict between the facial nerve and the vertebral artery and the posterior inferior cerbellerar artery. However, the pathology of the cerebellopontine angle remains especially tumoral. Imaging should not only make the diagnosis but also make an exhaustive, pretherapy, and accurate assessment of the three main tumours found in this area: the vestibular schwannoma, the meningioma, and the epidermoid cyst.

Adolescent↗
PubMed1994

Measurement of muscle tone in children with cerebellar ataxia.

An electro-mechanical device has been used to measure muscle tone in 12 children with cerebellar ataxia and in 12 healthy children matched for age and sex. All the children also had their tone assessed clinically. The machine measurement showed that six (50%) of the 12 ataxic children had hypotonia, one was hypertonic, while five had normal tone. There was significant correlation between estimation of muscle tone by the machine and by clinical examination. The machine will serve as a valuable addition to other devices already being used to measure the other motor deficits encountered in children with cerebellar disease--such as devices that measure gait ataxia, truncal balance, intention tremor and incoordination of the limbs. It is re-emphasized that assessment or confirmation of clinical signs by reliable and reproducible instrumentation, offers a more objective basis for management and follow-up of patients, than clinical testing alone, and eliminates the often-encountered inter-tester discrepancies.

Adolescent↗
PubMed1979

[Acoustic neuroma and others tumors of the angle, and internal auditory meatus. Surgical results and choice of the approach (126 cases) (author's transl)].

126 tumors of the angle and I.A.C. (118 acoustic neuromas) have been operated by the author from 1966 to 1978. The surgery was done either by the middle fossa, or the translabyrinthine, or the retrosigmoid approach. The perservation of the Facial nerve is obtained in 93%, the facial function is normal in 70%. The hearing is preserved after removal of the tumor in 50% of the intracanalar neuromas, and in 35% after removal of tumors expanded in the angle.

Adolescent↗
PubMed1990

Striatonigral degeneration. A clinicopathological study.

The clinical and pathological features of 10 cases of striatonigral degeneration are described: 5 were misdiagnosed in life as Parkinson's disease. Retrospectively, helpful early pointers to the diagnosis in these cases included unexplained falls, autonomic dysfunction, absence of rest tremor and failure to respond to L-dopa, but these were not always present. The pathological diagnosis could not be excluded on macroscopic examination of the striatum. Relative preservation of the putamen occurred in the 4 patients who benefited from L-dopa. The caudate nucleus was involved in all cases and there was no sparing of the large striatal neurons. In mild cases, involvement of the putamen was confined to its posterior two-thirds, dorsolaterally. With increasing severity this extended in a dorsal to ventral and posterior to anterior direction. Seven of the cases had evidence of olivopontocerebellar damage, but only 2 of these had clinical evidence of cerebellar disease. Correlation was found between the neuronal counts in caudate:putamen, striatum:nigra compacta, globus pallidus:nigra compacta, nigra compacta:locus coeruleus. The most severely involved part of the substantia nigra pars compacta was the ventrolateral zone, which projects to the dorsal putamen, the earliest site of striatal disease.

Aged↗
PubMed1998

[Paraneoplastic cerebellar degeneration with asymmetrical pan-cerebellar syndrome].

INTRODUCTION: Paraneoplasic cerebellar degeneration is seen clinically as a pancerebellar condition which is usually symmetrical. Different families of tumours are associated with this, particularly (in view of its frequency) oat cell pulmonary carcinoma, gynecological tumours and Hodgkin's lymphoma. CLINICAL CASE: Signs of cerebellar atrophy were seen on MR and cortical hypoperfusion was seen on Single Photon Emission Computerized Tomography (SPECT). We present the case of a 76 year old woman who presented with an asymmetrical pancerebellar disorder of gradual onset, with positive anti-self antibodies and undifferentiated carcinoma of the breast. CONCLUSIONS: Paraneoplasic cerebellar degeneration should be suspected in a patient with symmetrical, progressive cerebellar disease. The syndrome characteristically starts with a slightly uncoordinated gait. This progresses over a period of weeks or months to an ataxic gait with incoordination of the limbs, dysarthria and frequently nystagmus with oscilloscopy. No satisfactory treatment has been found for DCP in spite of trials with vitamins, corticosteroids, plasmapheresis and immunoglobulin infusion. Slight improvement may be seen after treatment of the primary tumour.

Adenocarcinoma↗
PubMedDate not supplied

The contribution of the cerebellum to mental and social functions in developmental age.

Here are present the data concerning the intellectual, language and frontal performances of 24 children who had undergone surgery because of cerebellar hemispheric or vermis tumors and one girl with viral cerebellitis. The children with right cerebellar tumors presented auditory sequential memory and language processing disturbances; those with left cerebellar tumors showed deficits in spatial tests and visual sequential memory. The girl with cerebellitis showed a complex neuropsychological picture with impairment in processing language and in general sequential functions. Lesions of the vermis lead to two pictures: 1) a postsurgical mutism that could be subdivided into speech disorders (even to the extent of anarthria) and true language disturbances similar to frontal aphasia; and 2) behavioral disturbances ranging from irritability to a truly autistic response. These data seem to support the recently attributed role of the cerebellum as a modulator of the superior mental and social functions.

Adolescent↗
PubMed2004

Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency.

The clinical, neuroradiological, neuropathological and biochemical findings in a patient with optico-cochleo-dentate degeneration (OCDD; OMIM 258700) are presented in a severe case succumbing at the age of 4 years. The electron microscopic and biochemical data showed for the first time that OCDD may occur as the phenotypic expression of D-bifunctional protein deficiency, i.e., a peroxisomal disorder. The boy was born as the first child of healthy, consanguineous parents of Turkish origin. No other family members were affected. The main clinical symptoms consisted of muscle hypotonia ("floppy infant"), generalized epileptic fits, hypacusis, rotatory nystagmus, insufficient pupillary reactions, and mental retardation. Fibroblast cultures revealed D-bifunctional protein deficiency. Neuropathological examination displayed moderate frontoparietal and insular microgyria, and atrophy of the cerebellum. Loss of neurons was severe in the granular layer, the Purkinje cell band of the cerebellum, and rather complete in the dentate nucleus. A corresponding loss of myelinated fibers associated with characteristic periodic acid-Schiff-positive macrophages was most prominent in the white matter of the cerebellum. There was additional severe loss of myelinated fibers in the central portions of the optic nerve, reduction of the nerve fiber density in the cochlear nerve, and reduction of myelinated nerve fibers by about 80-90% in the sural nerve, which has not been studied in previous cases. At the electron microscopic level, characteristic inclusions mainly in perivascular macrophages and astrocytes were the most prominent finding. The inclusions usually showed a bilaminar structure, whereas trilaminar structures, typically seen in adrenoleukodystrophy, and multilaminar structures were less frequently seen.

3-Hydroxyacyl CoA Dehydrogenases↗
PubMed2001

[A case of Machado-Joseph disease presenting pure cerebellar ataxia].

We report a 61-year-old woman with Machado-Joseph disease (MJD) presenting with pure cerebellar ataxia. The patient exhibited an unsteady gait at the age of 51 years. She was admitted to our hospital at the age of 61 years. Her older brother had been diagnosed as having spinocerebellar degeneration (SCD). Our patient showed gaze-evoked nystagmus, wide-based gait, slight lack of coordination of the four extremities, mildly ataxic speech and slight decrease in the bilateral Achilles tendon reflexes. Babinski's sign was absent. Sensory impairments were not present and muscle tone and muscle strength were normal. There was no autonomic dysfunctions. MRI revealed moderate atrophy of the cerebellum and pons. We performed gene analysis of SCD using white blood cells from the patient, and the analysis showed 70 CAG repeats in the MJD1 gene, which is an abnormally high number of repeats. Compared with three reported cases of MJD presenting pure cerebellar ataxia, only our patient showed a nasal voice. The number of CAG repeats in the MJD1 gene of our patients was the most prolonged of the four cases. MJD should be considered in patients with familial SCD even if their neurological signs and symptoms outside the cerebellum are not obvious.

Ataxin-3↗
PubMed1978

Computerized tomography and auditory-evoked potentials. Use in the diagnosis of olivopontocerebellar degeneration.

The pneumoencephalogram has been the only diagnostic test available to confirm the diagnosis of olivopontocerebellar degeneration during life. This study suggests that pneumoencephalography may be obsolete and that the diagnosis of olivopontocerebellar degeneration may be established by abnormalities seen during computerized tomography (CT) and by abnormal responses to auditory-evoked potentials (AEPs). The combination of CT scans and AEPs provides a completely nontraumatic method of diagnosis in olivopontocerebellar degeneration and eliminates the need for pneumoencephalography.

Adolescent↗