1/113. association of anti-Yo (type I) antibody with paraneoplastic cerebellar degeneration in the setting of transitional cell carcinoma of the bladder: detection of Yo antigen in tumor tissue and fall in antibody titers following tumor removal.Anti-Yo (type I) autoantibodies reactive with Purkinje cell cytoplasmic antigens of 34 and 62 kd are found in the serum and cerebrospinal fluid of patients with paraneoplastic cerebellar degeneration associated with cancer of the ovary, uterus, adnexa, or breast. Anti-Yo antibody response is rarely associated with other tumors. Here, we present a patient who developed paraneoplastic cerebellar degeneration and anti-Yo antibody response in association with transitional cell carcinoma of the bladder. The presence of anti-Yo antibodies was confirmed by immunofluorescence assay and by Western blot analysis against both Purkinje cell lysates and the CDR62 fusion protein. Yo antigen was demonstrated in sections of the patient's tumor. Antibody titers fell after tumor removal. Transitional cell carcinoma should be considered in patients presenting with subacute cerebellar degeneration and anti-Yo antibody response in whom ovarian, adnexal, uterine, or breast cancer cannot be detected.- - - - - - - - - - ranking = 1keywords = cerebellar degeneration, paraneoplastic cerebellar degeneration, paraneoplastic, degeneration (Clic here for more details about this article) |
2/113. Opsoclonus in a patient with cerebellar dysfunction.After two days of malaise, headache, nausea, and vomiting, a 26-year-old man suddenly developed opsoclonus and stance and gait ataxia, without myoclonus. Having excluded a paraneoplastic etiology, we assumed that the disorder was probably related to a viral infection. Spontaneous resolution occurred in about two months. Opsoclonus became flutter dysmetria and then resolved. Saccadic eye movement recording disclosed the occurrence of hypermetria, increased velocity, and delayed latency, which also resolved. In this patient, the correspondence between clinical and ocular motor abnormality courses suggests a transient cerebellar dysfunction as the possible pathophysiologic mechanism for opsoclonus.- - - - - - - - - - ranking = 0.00014738561201904keywords = paraneoplastic (Clic here for more details about this article) |
3/113. Cerebellar cortical degeneration disrupts discrimination learning but not delay or trace classical eyeblink conditioning.The authors investigated classical eyeblink conditioning in a relatively rare patient, B.R., with extensive cerebellar cortical atrophy and marked sparing of the dentate nucleus. Patient B.R.'s ability to acquire and extinguish simple associations (delay and trace conditioning tasks) as well as her ability to acquire more complex associations (temporal and simple discrimination tasks) were examined. There are 2 primary findings from this study. First, B.R. showed normal acquisition and extinction in delay and trace conditioning. Second, she demonstrated a complete inability to learn associative discriminations, even in the case of a simple 2-tone discrimination within the context of a delay paradigm. The latter finding was unexpected because of the sparing of her deep cerebellar nuclei. These data suggest that the cerebellar cortex, or pathways traversing cerebellar cortex, play an important role in classical eyeblink discrimination learning.- - - - - - - - - - ranking = 0.00039072471053413keywords = degeneration (Clic here for more details about this article) |
4/113. Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) with prominent degeneration of the intestinal wall and cactus-like cerebellar pathology.A 67-year-old woman had frequent subacute ileus, hearing difficulty, muscle atrophy and stroke-like episodes. Computed tomography revealed multiple low-density areas, which did not correlate with the vascular supply, in the cerebral cortex. She had metabolic disturbance comprising lactic acidosis and elevated pyruvate level. Her skeletal muscle biopsy specimen showed ragged-red fibers, and mitochondrial dna analysis revealed a point mutation at position 3243, findings consistent with MELAS. Examination of her small intestine revealed a necrotic zone and numerous abnormal large mitochondria in the smooth muscle cells, vascular media and endothelium, and intestinal ganglion cells. The cerebral cortex showed multiple microcystic necrotic foci in cerebral cortex. Cactus-like pathology resembling the changes associated with Menkes' kinky hair disease and torpedoes were observed in the cerebellar purkinje cells. The intestinal dysmotility due to MELAS and cerebellar changes were presumed to be associated with a disturbance of copper metabolism.- - - - - - - - - - ranking = 0.00039072471053413keywords = degeneration (Clic here for more details about this article) |
5/113. Auditory brainstem response and temporal bone pathology findings in a brain-dead infant.The criteria for assessing adult brain death have been already established, but those for infant brain death have not been yet established in japan. We report auditory brainstem response (ABR) and postmortem pathology of the temporal bone and brain of a brain-dead 9-month-old female. During the comatose state, her ABR showed only waves I and II bilaterally. autopsy revealed the presence of a left cerebellar astrocytoma, herniation and anoxic encephalopathy. The pathological examination of the temporal bone revealed the destruction of the inner ear particularly on the left side. In the auditory pathway of brain-dead patients, degeneration occurs first in the cerebrum, followed by the cochlear nerve. Thus, ABR is one of the useful means to assess brain death even in infants.- - - - - - - - - - ranking = 9.7681177633533E-5keywords = degeneration (Clic here for more details about this article) |
6/113. Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration.BACKGROUND: Neuronal intranuclear inclusion disease (NIID), a multiple-system degeneration, occurs usually as a sporadic disorder with onset in childhood. The disease has been found in monozygotic twins and in siblings. In 2 previously described families, the disorder has affected 2 generations. OBJECTIVE: To investigate the clinical, anatomical, and electrophysiological characteristics of NIID that affect the central nervous system and the central and peripheral components of the autonomic nervous system in 2 successive generations of a family. DESIGN: Case report. SETTING: Tertiary care hospital. patients: A 53-year old woman and her sons, aged 28 and 25 years. Symptoms began in childhood in 2 of the 3 cases, and consisted of urinary and fecal incontinence, erectile dysfunction in the men, and recurrent orthostatic hypotension. methods: We used results of clinical neurological evaluations; cranial magnetic resonance imaging; skeletal muscle and sphincter electromyography (EMG); peripheral nerve conduction and bulbocavernosus reflex studies; autonomic function tests; brainstem, visual, somatosensory, and motor evoked potentials; auditory and vestibular testing; metabolic and molecular genetic testing; and muscle and rectal biopsy with immunohistochemistry. RESULTS: We found variable degrees of ocular dysmetria in 2 cases, ataxic dysarthria and limb ataxia in 1, and hyperreflexia in 2. magnetic resonance imaging revealed cerebellar atrophy in all 3 cases and diffuse cerebral cortical atrophy in 1. Results of peripheral nerve conduction studies were normal. Sphincter EMG findings were abnormal in 2 of the 3 cases, and results of autonomic function tests were abnormal in the same 2. The EMG in 1 case revealed a chronic neurogenic pattern in the distal limb muscles. Metabolic and molecular genetic testing revealed no abnormal findings. Results of the muscle biopsy were negative, but results of the rectal biopsy revealed eosinophilic ubiquitinated intranuclear inclusions in neurons. CONCLUSION: Transmission of NIID in 2 generations presenting with autonomic failure and cerebellar ataxia was hereditary.- - - - - - - - - - ranking = 0.43315108629939keywords = cerebellar degeneration, degeneration (Clic here for more details about this article) |
7/113. Malignant squamous degeneration of a cerebellopontine angle epidermoid tumor. Case report.The authors present the case of a woman with a cerebellopontine angle (CPA) epidermoid cyst that degenerated into a squamous cell carcinoma. Malignant degeneration of an epidermoid cyst is an extremely rare occurrence. Malignant transformation must be considered in the differential diagnosis when new contrast enhancement on imaging studies and progressive neurological deficit are seen in a patient harboring an epidermoid cyst. The patient initially presented with a 10-year history of left trigeminal neuralgia, subacute left-sided hearing loss, and with facial weakness of 3 weeks' duration. Initial magnetic resonance (MR) imaging revealed a left CPA mass, consistent with an epidermoid. There was faint contrast enhancement where the tumor was in contact with the lateral brainstem. A subtotal resection was performed. Histopathological findings were consistent with an epidermoid tumor. One year after initial presentation, the patient's neurological deficit had increased, and follow-up MR imaging demonstrated a large contrast-enhancing tumor filling the left CPA and compressing the brainstem. At repeated surgery a squamous cell carcinoma arising from the previous epidermoid was found. The patient was subsequently treated with external-beam radiotherapy and stereotactic radiosurgery. Her tumor stabilized. Three years and 8 months after the patient's initial presentation, a new area of tumor developed at the torcular Herophili. The patient died shortly thereafter. Malignant squamous degeneration is a rare cause of enhancement on MR images, as is progressive neurological deficit in a patient with an epidermoid. The combination of subtotal resection, external-beam radiotherapy, and stereotactic radiosurgery may be useful for local tumor control but the long-term prognosis is guarded.- - - - - - - - - - ranking = 0.0005860870658012keywords = degeneration (Clic here for more details about this article) |
8/113. Cerebellar degeneration and autoimmunity to zinc-finger proteins of the cerebellum.The serum of a patient with subacute cerebellar dysfunction was used to probe a cDNA expression library and isolate two genes: Zic1 (zinc-finger of the cerebellum) and Zic4. The patient had intrathecal synthesis of Zic antibodies, suggesting that the Zic proteins were autoantigens of the neurologic disorder. The Zic proteins are involved in cerebellar development and are reported as being preferentially expressed by medulloblastomas. It was found that the expression of Zic proteins is enriched in, but not limited to, medulloblastomas and primitive neuroectodermal tumors.- - - - - - - - - - ranking = 0.00039072471053413keywords = degeneration (Clic here for more details about this article) |
9/113. Stasis of 111In-DTPA in the posterior fossa in patients with cerebellar degeneration.Prolonged stasis of 111In-DTPA was noted in the poterior fossa in two patients during cisternography. Both patients had clinical signs of cerebellar dysfunction and pneumoencephalographic evidence of marked cerebellar degeneration. Cisternography may be a useful adjunct in evaluation patients with suspected cerebellar atrophy.- - - - - - - - - - ranking = 0.54131675640219keywords = cerebellar degeneration, degeneration (Clic here for more details about this article) |
10/113. Ovarian carcinoma causing cerebellar degeneration.Subacute cerebellar degeneration can be associated with malignancies. If the underlying tumor is a gynecological one, Purkinje cell cytoplasmic antibodies in serum serve as tumor markers.- - - - - - - - - - ranking = 0.54131675640219keywords = cerebellar degeneration, degeneration (Clic here for more details about this article) |
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