Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.1.53 (sialidase)
 2,694 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cases of two Japanese siblings with adult-onset sialidosis type I are reported. A 38-year-old man had gradually developed involuntary movement of the extremities from the age of 31. On admission, he had no skeletal abnormalities and hepatosplenomegaly, but showed myoclonus of the extremities and dyskinesia in the perioral region. We found cherry-red spots and a giant potential in a somatosensory evoked potential (SEP) study. Then, the diagnosis of sialidosis type I was confirmed by low activity of white blood cell sialidase. MRI (SE, TR 2,000/TE 100, 40) of the brain revealed a small high intensity are in the cerebral white matter adjacent to the posterior horn of the right cerebral ventricle. To our knowledge, no report on MRI findings of the brain in sialidosis type I has been reported. So far, it is uncertain whether or not such a lesion is caused by sialidosis. He was treated with clonazepam, sodium valproate, diphenylhydantoin, or haloperidol. The former two improved the symptoms, but SEP findings did not change. The subject's 43-year-old brother had also myoclonus and epilepsy since the age of 31, and low activity of sialidase. Their mother had no symptoms, but her sialidase activity level was as low as that of a carrier. These two are the eighth and ninth cases of sialidosis type I in Japan to be confirmed by enzyme activity.
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PMID:[Two siblings with adult-onset sialidosis type I (cherry-red spot-myoclonus syndrome)]. 877 7

We examined a patient with adult onset sialidosis using N-isopropyl-p-123I-iodoamphetamine single photon emission computed tomography (SPECT) and 18F-2-fluoro-2-deoxy-D-glucose positron emission tomography (PET). A 41-year-old [correction of 47] man was admitted to our hospital because of the involuntary movement of his extremities and gait disturbance. On admission, he exhibited action myoclonus in his face and extremities with cerebellar ataxia. Ophthalmoscopy revealed cherry-red spots on his retina. Enzymological analysis of his leucocytes and skin fibroblasts revealed primary sialidase deficit. Brain MRI showed no abnormal findings. Brain SPECT showed decreased cerebral blood flow in the cortex of bilateral occipital lobes, and PET study revealed decreased glucose metabolism in the cortex of bilateral occipital lobes. This case is the thirteenth patient of adult onset sialidosis in Japan. As far as we know, there are no previous reports of SPECT or PET on sialidosis patients. Why the cerebral blood flow and glucose metabolism was decreased in the occipital lobe region remains obscure. From the literatures, we suppose that the onset time of neuronal tissue degeneration or the sensitivity to cumulative metabolites in the occipital region may be different from those in other regions. Further studies are required to confirm abnormalities of cerebral blood flow and metabolism in sialidosis.
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PMID:[Neuroradiological findings on cerebral blood flow and metabolism of a case of adult onset sialidosis]. 950 67

We describe 3-year clinical course of a 54-year-old Japanese man who presented with action myoclonus, parkinsonism and epilepsy. There was no family history or consanguinity. The patient was well until the age of 51 years (in 1986), when he noted slow movements, memory disturbance and left hand tremor. He was treated with anti-Parkinson drugs without any improvements. Soon thereafter, he developed a gait disturbance and generalized tonic clonic seizures. He was admitted to our service at the age of 53 years. General physical examination revealed no hepatosplenomegaly. Neurological examination showed mild dementia. Neither retinal pigmentation nor cherry red spot was noted. He was unable to walk due to marked frozen gait. His upward gaze was limited and saccadic eye movement was slow. He had action myoclonus in both upper extremities and resting tremor on the left side. He showed mild left hemiparesis. Deep tendon reflex was hyperactive in both side with extensor plantar responses. MRI demonstrated cortical atrophy, especially marked at the bilateral temporal lobes with a right side predominance. Leukocyte lysosomal enzyme activities of beta-hexosaminidase, beta-galactosidase and sialidase were within normal limits. The patient died of pneumonia on April 25, 1989. At the time of a neurological CPC, neurologists reached the clinical diagnosis of adult-type neuronal ceroid-lipofuscinosis. Postmortem examination revealed bilateral bronchopneumonia. The brain weighed 1,219 g and showed atrophy of the temporal lobes. Histological examination showed neuronal cells with swollen cytoplasm and lipofuscin-like granules throughout the CNS, including the cerebral cortex, thalamus, substantia nigra, motor nuclei of the brain stem, dentate nuclei, inferior olivary nuclei. Clarke's nuclei and anterior horn cells. Marked neuronal loss was noted in the right temporal lobe and substantia nigra. Electron micrographs of the frontal cortex revealed "fingerprint profiles" in the cytoplasm of neuronal and glial cells. Pathological findings were consistent with the diagnosis of adult-type neuronal ceroid-lipofuscinosis (Kufs' disease).
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PMID:[A 54-year-old man with action myoclonus, parkinsonism and epilepsy]. 1058 20