Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An adult case of mucolipidosis with beta-galactosidase and neuraminidase deficiencies is reported. The patient was a 35-year-old Japanese female with coarse face, lumbar vertebral beaking, action myoclonus, cerebellar ataxia, clouding of the cornea, macular cherry-red spots, hearing loss and vacuolated lymphocytes, but without mucopolysacchariduria. Her clinical symptoms developed at a late age with a slow progression. The enzyme activities of beta-galactosidase were deficient in leukocytes and cultured skin fibroblasts but normal in serum. Sialic acid-rich glycopeptides and oligosaccharides were increased in the urine. Neuraminidase activities toward fetuin, alpha-N-acetylneuraminosyl-(2 leads to 3) lactose and alpha-N-acetylneuraminosyl-(2 leads to 6) lactose were deficient in cultured fibroblasts. It is suggested that the main disturbance in the present case might be the catabolic process of glycoproteins and oligosaccharides due to neuraminidase deficiency.
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PMID:Adult mucolipidosis with beta-galactosidase and neuraminidase deficiencies. 677 51

Two young adult siblings were diagnosed as having a deficiency of acid beta-galactosidase activity in leukocytes and fibroblasts. The parents had enzyme levels approximately half of the normal level, consistent with this being the primary enzymatic lesion. Sialidose activities measured with natural and synthetic substrates in the patient's skin fibroblast cultures were normal. Hybridization of one of these patient's cells with cells from a patient with GM1 gangliosidosis, Type 1 did not show complementation of beta-galactosidase activity. However, when the cells from the patient were hybridized with cells from a patient with combined sialidase and beta-galactosidase deficiency, complementation was observed. These two siblings have ataxia, mild intellectual deterioration, slurred speech, mild vertebral changes and little, if any, visceromegaly. They do not have myoclonus, seizures or cherry-red spots, which are found in most patients with combined sialidase and beta-galactosidase deficiency. These patients are discussed with regard to other patients in the literature called variant or adult GM1 gangliosidosis.
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PMID:Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis. 677 95

A further patient with a presumed primary deficiency of sialidase N-acetylneuraminic acid hydrolase EC 3.2.1.18) is described. Clinically the patient falls into the sialidosis type 2 category of the recent classification of Lowden & O'Brien (1979), i.e. he manifests coarse facies, mental retardation and skeletal changes of dysostosis multiplex as well as myoclonus and a cherry-red spot at the macula. Sialidase activity in fibroblasts was 4% of control values using a methylumbelliferone substrate. The father of the patient was found to have 50% activity. Abnormal amounts of sialyloligosaccharides were found in the urine. The electrophoretic mobility of known glycosylated enzymes and proteins was found to be altered (more anodal than usual), but could be corrected by incubation of the cell extracts with bacterial neuraminidase. The relationship of the present patient to the Lowden & O'Brien classification is discussed.
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PMID:Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case. 677 97

A 22 year old patient with non-familial progressive myoclonus, macular cherry-red spot, moderate cerebellar syndrome and normal intelligence is described. The myoclonus began at the age of 18 years. Focal myoclonus could easily be elicited by voluntary and passive movements, and by touch and electrical stimulation of median nerve. Somatosensory evoked potentials showed a high voltage early component. Jerk-locked averaging of the EEG preceding action myoclonus detected an otherwise hidden, time-related, EEG spike. The myoclonus responded partially but clearly to L-5 hydroxytryptophan plus carbidopa treatment. Biochemical study showed an alpha-neuraminidase deficiency in cultured fibroblasts: the decrease in this enzyme activity was compared to that found in a patient affected by mucolipidosis III.
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PMID:Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult. 677 61

Thirteen patients with galactosialidosis (beta-galactosidase-neuraminidase deficiency) from 9 families including two autopsy cases were studied from clinical, genetic, cytological and biochemical standpoints. Coarse facies, myoclonus, cerebellar ataxia, angiokeratoma, loss of vision, corneal opacity and cherry-red spots were the main signs and symptoms although these clinical manifestations were widely variable in individual cases. It is not yet known whether these clinical variations represent genetic heterogeneity or not. Deficiency of beta-galactosidase and neuraminidase was the most prominent biochemical abnormality in this disease. Beta-Galactosidase activity was restored in fibroblasts when serine-thiol protease inhibitors were added to the culture medium. Cathepsin B activity was significantly high in fibroblasts, liver and brain from the patients. It was demonstrated that neuraminidase was susceptible to the procedures for disrupting cells and tissues, such as sonication and freezing. The stability of this enzyme may be dependent on the molecular state in relation to cell membranes.
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PMID:Galatosialidosis (beta-galactosidase-neuraminidase deficiency): clinical and biochemical studies on 13 patients. 681 2

Defects of neuraminidase activities towards sialyloligosaccharides in fibroblasts and leucocytes and enhanced excretion of sialyloligosaccharides in urine were shown in patients with adult type sialidosis with partial deficiency of beta-galactosidase and cherry red spot-myoclonus syndrome. No differences in their neuraminidase residual levels and urinary excretion patterns on thin-layer chromatography were found between these two disorders. In mucolipidosis II and III patients, the neuraminidase activities towards sialyloligosaccharides were almost normal in leucocytes, although decreased in fibroblasts. The discrepancy of neuraminidase activities towards 2 leads to 3 and 2 leads to 6 sialyloligosaccharide isomers was not noticed in all cases.
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PMID:Neuraminidase activities in sialidosis and mucolipidosis. 709 97

A macular cherry red spot is a strikingly visible abnormality indicating storage of an abnormal metabolic product by the retinal ganglion cells. The flash and pattern electroretinograms (ERG) and visual evoked potentials (VEP) of a patient with the cherry-red spot-myoclonus syndrome, a sialidosis due to neuraminidase deficiency, were studied. The flash ERG was normal but the pattern ERG had an abnormal waveform with a significantly attenuated p-q wave component. Corresponding flash VEPs were normal, but pattern VEPs were delayed. This case documents human evidence that the pattern ERG is organised in the ganglion cells whereas the flash ERG, as is well known, is generated in the distal retina.
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PMID:Abnormal pattern electroretinograms with macular cherry-red spots: evidence for selective ganglion cell damage. 730 43

A 24 year-old white male patient presents since 8 years progressive gait disturbances, myoclonic jerks and a decrease of eyesight. Clinical examination reveals features reminding of Ramsay Hunt dyssynergia cerebellaris myoclonica associated with cherry-red spots in the eyegrounds. The diagnosis of sialidosis is supported by the ultrastructural examination of skin-conjunctival biopsies and by the abnormal urinary excretion of sialyloligosaccharides. It is established by the demonstration of a deficiency of acid neuraminidase in leukocytes and cultured fibroblasts. The phenotypic spectrum of sialidosis is extremely wide; this case belongs to the cherry-red spot myoclonus syndrome (Rapin et al., 1978), also called sialidosis type 1 - normosomatic group (Lowden and O'Brien 1979).
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PMID:[A new observation of cherry-red spot myoclonus syndrome (author's transl)]. 736 41

The sialidoses are a group of storage disorders of autosomal recessive inheritance in which there is a deficiency of lysosomal neuraminidase (sialidase) activity and associated sialyloligosacchariduria. Patients with one type of sialidosis may present initially to the ophthalmologist because of a cherry-red spot at the macula. In most of these patients progressive neurologic deficits ultimately develop; myoclonus is a prominent feature. A patient with the so-called cherry-red spot--myoclonus syndrome is described who had a marked deficit of the ocular smooth pursuit system, with consequent nystagmus. His visual system was normal clinically and electrophysiologically despite the obvious storage in the retinal ganglion cells.
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PMID:Sialidosis: the cherry-red spot--myoclonus syndrome. 737 86

Macular cherry-red spot, myoclonus and progressive mental deterioration are described in a man of 16 years. Morphological examination of the liver, bone marrow and fibroblasts showed numerous vacuoles containing storage material in the cytoplasm of the cells. Twelve different oligosaccharides were isolated from urine and their structures were determined. All have N-acetylglucosamine in a reducing end and (2--3) and 2--6) neuraminic acid in the terminal position. This abnormal urinary oligosaccharide excretion is due to absence of (2--6) neuraminidase which was not detected in fibroblast culture. This case is discussed in relationship to other cases with macular cherry-red spot, myoclonus and oligosaccharide urinary excretion.
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PMID:Macular cherry-red spot and myoclonus syndrome. Juvenile form of sialidosis. 743 Oct 38


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