Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report an autopsy-diagnosed case of Creutzfeldt-Jacob disease (CJD) showing diffuse reduced uptake in SPECT and a high level of neuron-specific enolase (NSE) in the cerebrospinal fluid (CSF). A 75-year-old woman with a 3-month history of progressive gait ataxia and dementia was examined. Four months after onset of the disease, she developed an akinetic mutism with normal CT and MRI. She was admitted for further examination, and electroencephalography showed periodic synchronous discharges. NSE in the CSF showed a high level at 90.6 ng/ml, and SPECT showed diffuse reduced uptake in the supratentorial region, with relatively spared uptake in the cerebellum. She died 13 months after onset of the disease, and the autopsy diagnosis was CJD. SPECT data and the level of NSE in CSF seem to be useful for clinical diagnosis and pathogenetic analysis in the early stage of CJD.
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PMID:[Diffuse reduced uptake in 99m-Tc-HM-PAO SPECT and high level of neuron-specific enolase in cerebrospinal fluid in the early stage of Creutzfeldt-Jakob disease]. 138 66

We evaluated the clinico-pathophysiological features of three patients with acute autonomic and sensory neuropathy (AASN) who were followed for over 3 years. Signs of an autonomic disturbance including vomiting, anhidrosis, urinary disturbances, orthostatic hypotension and reduced coefficient of variation of the R-R interval on electrocardiography gradually improved about 1 year after onset. However, all three exhibited severe generalized sensory impairment for all modalities with the development of persistent sensory ataxia. No sensory nerve action potentials could be elicited and no somatosensory evoked potentials could be obtained. Sural nerve biopsy revealed severe axonopathy. In two patients, a high-intensity area was observed in the posterior column of the spinal cord on T2*-weighted axial magnetic resonance images. The level of neuron-specific enolase in cerebrospinal fluid was markedly elevated in two patients, indicating spinal nerve root or sensory neuron damage. Motor nerve function was well preserved in all patients. Our findings suggests that the major lesion in patients with AASN, particularly those with a sensory deficit, is present in the dorsal root ganglion neurons, that is there is a ganglioneuronopathy.
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PMID:Clinico-pathophysiological features of acute autonomic and sensory neuropathy: a long-term follow-up study. 856 22

Until recently, the clinical diagnosis of CJD relied mainly on three criteria. These include patient history (rapidly progressive dementia), neurological findings (ataxia, pyramidal/extrapyramidal signs, myoclonus, akinetic mutism) and typical electroencephalographic (EEG) findings. These criteria are fulfilled in typical cases. The occurrence or increase of certain proteins in cerebrospinal fluid (CSF; 14-3-3, neuron-specific enolase) now provide important adjuncts in recognizing variant forms. Although these proteins can be detected in other neurological diseases accompanied with substantial brain damage such as encephalitis, they are also characterized by their high sensitivity and specificity with regard to other dementing processes (Alzheimer and vascular dementia). The increase in the number of positive cases during the last years in Germany reflects an improved case ascertainment rather than the appearance of the variant CJD (vCJD). Although several recent cases with a long duration of the disease were actually recognized, they did not reveal the typical florid plaques at autopsy. They were revealed as a rare variant of sporadic CJD, which is characterized by homocygosity for valine at codon 129 and PrP(Sc) type 1. This variant is positive for the 14-3-3 protein in CSF. Further subtypes described by Parchi et al. can also be characterized by a certain pattern of clinical symptomatology, EEG- and 14-3-3-findings. In addition, differential diagnosis revealed some treatable dementias among the most common diseases (Alzheimer and vascular dementia) such as herpes encephalitis, multiple sclerosis and Hashimoto encephalitis, particularly in the younger age group.
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PMID:Clinical and differential diagnosis of Creutzfeldt-Jakob disease. 1121 18

A granular cell tumor involving the pituitary gland, optic chiasm and ventral pyriform lobes was discovered in a 12-year-old Labrador Retriever. Clinical signs included acute blindness, seizures, ataxia, weakness, and behavioral changes. The diagnosis was established by histopathologic and ultrastructural examination of neoplastic tissues collected at necropsy. Granular cell tumors involving the central nervous system are well documented in humans but rarely have been described in dogs. The location of the neoplasm and the clinical symptoms seen in this dog closely parallel those of a rare syndrome in humans commonly described as symptomatic parasellar or pituitary granular cell tumors. The cell of origin for these tumors is still highly debated, and attempts to characterize human granular cell tumors through immunohistochemistry have produced conflicting results. An immunohistochemical profile of this neoplasm revealed focal positive staining for vimentin with a lack of staining for neuron-specific enolase, glial fibrillary acidic protein, S-100, and synaptophysin. All neoplastic cells were strongly positive with the periodic acid-Schiff reaction.
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PMID:Symptomatic granular cell tumor involving the pituitary gland in a dog: a case report and review of the literature. 1135 66

A 3-year-old Staffordshire Terrier was presented to the Texas Veterinary Medical Center with a short progressive history of anorexia, weight loss, and weakness that had progressed to ataxia and collapse with empirical treatment. The dog was tetraparetic and obtunded. Results of a complete neurologic evaluation were consistent with severe, multifocal to diffuse disease involving the forebrain, spinal cord, and brainstem. Cerebrospinal fluid, obtained via cerebellomedullary cisternal puncture, was highly cellular and contained large atypical round cells with small numbers of nondegenerate neutrophils and large mononuclear cells. Rare eosinophils and small lymphocytes were noted. The atypical round cells were approximately 15-25 micro m in diameter with a single nucleus set in a small amount of cytoplasm. The nuclei were typically round to slightly ovoid; however, occasional notched, lobulated, and reniform nuclei were observed. These cells were interpreted as malignant lymphocytes. Owing to a grave prognosis, the animal was euthanized and a necropsy was performed. No gross lesions were found in the central nervous system. Multiple sections of cerebellum, medulla, and spinal cord contained a diffuse neoplastic infiltrate that was predominantly meningeal with rare superficial neuropil invasion. The neoplastic cells were arranged in sheets, cords, and rosettes. Immunohistochemical staining for vimentin, pancytokeratin, CD3, CD79a, synaptophysin, S-100, and neuron-specific enolase was negative; glial fibrillary acidic protein (GFAP) staining was equivocal. Based on histologic findings, a diagnosis of medulloblastoma was made. This case documents the rare occurrence of a canine medulloblastoma and illustrates the difficulty in distinguishing between some embryonal brain tumors and lymphoma.
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PMID:Cerebrospinal fluid from a dog with neurologic collapse. 1296 66

Medulloblastoma is a malignant invasive embryonal tumor of the cerebellum with preferential manifestation in children. The peak of occurrence is seven years of age. Seventy percent of medulloblastomas occur in individuals younger than 16. In adulthood, 80% of medulloblastomas arise in the 21-40 years age group. A 48-year-old male patient was admitted to the hospital with complains of headache, ataxia, morning vomiting and difficulty in speech was operated with the diagnosis of presence of mass of 4 x 7 cm size retaining a diffuse homogenous contrast in the posterior fossa. The diagnosis of desmoplastic medulloblastoma was given after histopathological examination. Immunohistochemical examination revealed that neoplastic cells showed staining with neuron-specific enolase and synaptophysin but not with glial fibrillary acidic protein. This lesion showed nodular, reticulin free-zones (pale islands) surrounded by densely packed, highly proliferative cells. The pale regions within the tumor did not contain reticulin fibers. Desmoplastic medulloblastoma is encountered especially in adulthood. This type of tumor rarely occurs beyond the fifth decade of life. We present a case of desmoplastic medulloblastoma in a 48-year-old male.
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PMID:Desmoplastic medulloblastoma in a 48-year-old male. 1557 57

Ten dogs with neuroendocrine carcinoma of the liver were selected for inclusion in the study. Clinical signs were anorexia (7), vomiting (5), polydipsia/polyuria (3), icterus (2), lethargy (2), weight loss (2), paresis (1), ataxia (1), weakness (1), collapse (1), and urinary tract infection (1). Hematologic and biochemical abnormalities included anemia (2/8), leukocytosis (4/8), high liver enzyme activity (serum alkaline phosphatase, 7/9; alanine transaminase, 7/9; aspartate transaminase, 8/9), and high total bilirubin (6/9). Grossly, the tumors were diffuse, involving all liver lobes in six dogs, and two dogs had various-sized nodules in addition to diffuse involvement. Histologically, there were eight tumors with solid or trabecular pattern (group A), one tumor with cords or rows of neoplastic cells (group B), and one tumor with multiple rosette-like structures (group C). Immunohistochemical studies revealed that all 10 neoplasms were positive for at least one of the endocrine markers used: neuron-specific enolase (NSE; 8/10), synaptophysin (5/10), and chromogranin-A (3/10). A panel of NSE, chromagranin-A, and synaptophysin detected 100% of the tumors in our series. Electron microscopy confirmed the diagnosis by the presence of intracytoplasmic neurosecretory granules in the two examined cases. Our results show that neuroendocrine markers commonly used in humans can be used for the diagnosis of hepatic neuroendocrine carcinoma in dogs, preferably a panel of synaptophysin, chromagranin-A, and NSE because chromogranin-A alone is not as useful in dogs as in humans.
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PMID:Canine hepatic neuroendocrine carcinoma: an immunohistochemical and electron microscopic study. 1575 67

A 10-yr-old female lion (Panthera leo) presented for acute onset ataxia and weakness with a history of two seizure episodes 6 mo prior to presentation and a persistent head tilt for at least 6 mo. Gross necropsy findings included a gelatinous mass in the right cerebral hemisphere extending from the frontal to the occipital lobes. Histologically, the mass was composed of polygonal cells surrounding lakes of mucinous material. These cells had clear cytoplasm, ovoid basophilic nuclei, and inapparent cell processes. Immunoreactivity was positive for S100 and neuron-specific enolase but negative for glial fibrillary acid protein, myelin basic protein, neurofilament triplet, vimentin, and cytokeratin. All findings were consistent with an oligodendroglioma. A second neoplasm, a pulmonary adenoma, was also iidentified at necropsy.
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PMID:Oligodendroglioma in an african lion (Panthera leo). 1911 Jul 12

A malignant schwannoma of the right acoustic nerve of a dog is described. The neoplasm was found during necropsy of a 12-year-old, spayed, female Labrador Retriever that experienced a sudden onset of severe pain in the neck and upon opening the mouth. Concurrent mild hind limb ataxia also was present. The tumor had infiltrative growth, and the spindle-shaped neoplastic cells were arranged in sheets and concentric whorls. Immunohistochemical staining of the neoplastic spindle cells was positive for S-100 antigen, neuron-specific enolase, and glial fibrillary acidic protein.
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PMID:Malignant acoustic schwannoma in a dog. 1913 14

Opsoclonus myoclonus ataxia syndrome (OMAS) is a very infrequent paraneoplastic or postinfectious movement disorder, which may occur at any age, most commonly between 6 and 36 months of age. In four days, a previously healthy 30-month-old girl progressively developed gait instability, intention tremor, dysarthric speech, irritability and altered sleep. Physical and neurological examination did not reveal additional deficits. She had had a transient exanthema without fever three weeks before. Basic blood analysis, serologies, cultures, urine toxin detection, EEG and cerebral CT were normal. Lumbar puncture showed minimal lymphocytosis. On the fifth day following the onset of symptoms, the ataxia worsened, precluding sitting, and the tremor was aggravated by intentional myoclonus. Chaotic saccadic, large amplitude multidirectional but conjugated eye movements appeared. An opsoclonus was suspected and a chest X-ray and CT revealed a paravertebral thoracic mass. Surgery confirmed a localized ganglioneuroblastoma. Blood neuron-specific enolase and urine catecholamine levels were normal. Opsoclonus disappeared with high doses of prednisone and following surgery. Ataxia improved but the patient still required low daily doses of steroids for one year.
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PMID:[Paraneoplastic opsoclonus myoclonus ataxia syndrome]. 1943 May 15


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