Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, cerebellar ataxia, myoclonus, convulsive seizures, and pyramidal tract signs showed a profound deficiency of beta-galactosidase in liver and brain. Thrombocytopathy of undetermined etiology was evident since childhood, and the patient died of intracranial bleeding at age 22. Cerebral ganglioside pattern was normal. Hepatic mucopolysaccharides were not increased. GM1-gangliosidosis and mucopolysaccharidosis were ruled out by those analytical data. However, a large amount of amylopectin-like polysaccharide was found to be accumulated in liver. Hepatocyte contained numerous inclusion bodies with granulofibrillary structure similar to Lafora bodies, corpora amylacea, and inclusion bodies in glycogenosis type IV. This case seems to represent a new inborn metabolic disease closely related to GM1-gangliosidosis and mucopolysaccharidosis. The primary metabolic defect is not known at present.
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PMID:Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver. 40 3

A case of GM1-gangliosidosis with high activity of hepatic neutral beta-galactosidase is reported. GM1-beta-galactosidase was deficient. Ganglioside GM1 was accumulated in the liver of this patient. Clinically this Japanese girl started convulsive seizures at 5 months of age, had hepatomegaly, and macular cherry-red spots, but lacked gargoylelike clinical characteristics. Correlation of clinical and biochemical data is discussed.
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PMID:Gmi-gangliosidosis. A variant with high activity of hepatic neutral beta-galactosidase. 81 72

Here we report a follow-up on a boy born in 1983 into a family with presumed Simpson-Golabi-Behmel syndrome and first reported as patient 3 by Opitz [1984] under the designation "Golabi-Rosen" syndrome. The patient died at 25 months without having attained any measure of psychomotor development or maturation and with a neurologic picture of irritability, increased muscle tone, seizures, deafness and possible cortical blindness. He had a striking facial appearance similar to that of severely affected individuals in the family reported by Golabi and Rosen [1984], with mild hepatosplenomegaly, unusual skin, normal growth, decelerating OFC, and on autopsy a spongiform degeneration of brain stem and cerebrum. Results of all biochemical studies, including those pertaining to GM3 gangliosidosis, were normal.
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PMID:Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. 317 56

Neurophysiological studies (EEG, ERG, VEP and BAEP) have been carried out on a total of fifty-four patients (fourty-five GM2 and nine GM1 gangliosidosis) at various stages of the disease process. In infantile GM2 gangliosidosis, the EEG was midly abnormal from an early age but by the age of one year there was a rapid and progressive deterioration. EEG changes in late onset GM2 gangliosidosis were very variable and unrelated to age or enzyme defect. In both Type 1 and Type 2 GM1 gangliosidosis there was a progressive deterioration of the EEG. Paroxysmal features were not prominent in any of the gangliosidoses, despite the occurrence of seizures. The ERG remained normal in both GM2 and GM1 patients. In the infantile GM2 patients there was progressive loss of the VEP between nine and fifteen months of age but the timing of VEP changes were more variable in all the other groups. Evidence of brainstem dysfunction was found in one of the two TSD patients tested. The combined neurophysiological features appear to be characteristic for each group of gangliosidosis and differ from other neurometabolic disorders of childhood.
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PMID:Neurophysiological investigations in GM1 and GM2 gangliosidoses. 610 Jul 98

A 2 year-old non-Jewish boy had muscle hypertonia, a black cherry spot, dementia, and seizures. His skin biopsy showed membranous cytoplasmic bodies in axonal terminals and zebra body-like inclusions in Schwann cells. Biochemically, a deficiency of Hex A and two separate Hex B peaks indicated a type 1 (B variant, Tay Sachs) like subvariant of GM2-gangliosidosis.
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PMID:Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B. 625 71

A bovine cerebellar disorder of recurrent seizures characterized by loss of equilibrium, extension of the head and thoracic limbs, opisthotonus, nystagmus and falling to the side or backwards is described from 16 farms in the Brazilian state of Rio Grande do Sul. The main pathologic features were vacuolation, degeneration and loss of Purkinje cells with axonal spheroids in the cerebellar granular layer and white matter. Electron microscopic study of Purkinje cells showed cytoplasmic membranous bodies, similar to those observed in human and animal gangliosidoses. Feeding trials in calves demonstrated that the disease is an intoxication caused by ingestion of Solanum fastigiatum var. fastigiatum. A hypothesis is proposed that the intoxication is an induced lysosomal storage disease, probably a gangliosidosis.
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PMID:Intoxication by Solanum fastigiatum var. fastigiatum as a cause of cerebellar degeneration in cattle. 641 29

After the introduction of 4-methylumbelliferyl-2-acetamido-2-deoxy-beta A-D-glucopyranoside (4MUG) and its sulfated form (4MUGS) in the pre- and postnatal diagnosis and carrier identification of gangliosidosis genotypes, infrequent forms of the GM2 gangliosidosis Type B (Tay-Sachs disease) have been observed which show normal activity of Hexosaminidase A (Hex A) isoenzyme with the substrate 4MUG but absent or deficient activity against the sulfated form 4MUGS. Here we report the observation of a German/Hungarian boy aged 12 when he died with a prolonged course of a neurodegenerative disorder, later biochemically identified as a GM2 gangliosidosis B1-variant which is characterized by a deficient Hex A activity only against 4MUGS. The first clinical symptoms had occurred after the age of 14 months with a clear manifestation of the disease at age 3, when he presented disturbances of movement and tended to fall down. The slowly progressive course with brain atrophy, seizures and severe mental deterioration resulted in death after almost 9 years. At autopsy, the typical light microscopic neuronal changes of a "lysosomal storage disorder" were found, with multilamellar concentric bodies (MCB) and Zebra bodies in the neuronal cytoplasm at the electron microscopic level.
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PMID:GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent. 840 28

The clinical, biochemical, pathological and neuroradiological findings of a 2-year-old Saudi boy with infantile G(M1) gangliosidosis are reported. The patient had a progressive neurologic deterioration, manifesting with developmental regression, sensorimotor and psychointellectual dysfunction and generalized spasticity that started at 4 months of age. Cherry-red macula, facial dysmorphia, hepatomegaly, exaggerated startle response to sounds, skeletal dysplasia, and vacuolated foamy lymphocytes that contain finely fibrillar material in addition to lamellar membranes and electron-dense rounded bodies were seen. MRI of the brain demonstrated mild diffuse brain atrophy and features of delayed dysmyelination and demyelination. Brain FDG PET scan revealed a mild decrease in the basal ganglia uptake, and moderate to severe decrease in thalamic and visual cortex uptake, and an area of increased glucose uptake in the left frontal lobe, probably representing an active seizure focus. The functional changes indicated by FDG PET scan and the structural abnormalities shown on MRI were found to be complementary in the imaging evaluation of infantile G(M1) gangliosidosis.
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PMID:Cerebral fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI, and clinical observations in a patient with infantile G(M1) gangliosidosis. 1059 59

We have cross-bred twitcher mice (galactosylceramidase deficiency) and acid beta-galactosidase knockout mice (G(M1) gangliosidosis) and found that the acid beta-galactosidase gene dosage exerts an unexpected and paradoxical influence on the twitcher phenotype. Twitcher mice with an additional complete deficiency of acid beta-galactosidase have the mildest phenotype with the longest lifespan and nearly rescued CNS pathology. In contrast, twitcher mice with a single functional acid beta-galactosidase gene have the most severe disease with the shortest lifespan, despite the fact that G(M1) gangliosidosis carrier mice with an otherwise normal genetic background are phenotypically normal. A significant proportion of these galc(-/-), bgal(+/-) mice clinically develop additional extreme hyper-reactivity and generalized seizures not seen in any other genotypes. Consistent with the clinical seizures, widespread neuronal degeneration is present in the galc(-/-), bgal(+/-) mice, most prominently in the CA3 region of the hippocampus. The double knockout mice show a massive accumulation of lactosylceramide in all tissues. The brain inexplicably contains only a half-normal amount of galactosylceramide, which may account for the mild clinical and pathological phenotype. On the other hand, brain psychosine level is increased in all twitcher mice, but galc(-/-), bgal(+/-) mice show a significantly higher level than other genotypes. The reduced galactosylceramide in the brain of the double knockout mice and the significantly higher psychosine in the brain of the galc(-/-), bgal(+/-) mice cannot readily be explained from the genotypes of these mice. These observations are contrary to the expected outcome of Mendelian autosomal recessive single gene disorders and may also be interpreted as that the acid beta-galactosidase gene functions as a modifier gene for the phenotypic expression of genetic galactosylceramidase deficiency.
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PMID:Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency). 1086 Dec 97

We studied the clinical features, laboratory investigation, management and natural history of a cohort of patients with Juvenile Parkinsonism (JP), seen at a tertiary referral centre. JP was defined as Parkinsonism with onset at age 20 years or less. Six patients (five male, one female) entered the study. The mean age at onset of Parkinsonism was 12.5 years (range 7-19) and the mean follow-up time was 49.3 months (range 40-57). Bradykinesia, rigidity, and postural instability were observed in all patients and five subjects had tremor. Dystonia was present in four subjects. Other clinical features were dementia (five subjects), supranuclear ophthalmoparesis (five subjects), seizures (three subjects), multifocal myoclonus (one subject), decreased deep reflexes (one subject), pyramidal signs (one subject). Family history of Parkinson's disease (PD) was positive in one subject. Work-up for Wilson's disease was negative in all patients. Neuroimaging studies showed cortical atrophy in two subjects and mild brainstem atrophy in two others. Sea-blue histiocytes were found in one subject. L-dopa improved the Parkinsonism in all subjects but four rapidly developed fluctuations and dyskinesias, requiring, in one, stereotaxic surgery. After a mean disease duration of 6.5 years, five subjects require assistance for performance of all daily activities. JP is a heterogeneous clinical entity. In the majority of patients, no underlying cause is identified. The unusual clinical features suggest most subjects have a CNS degenerative disease distinct from PD. There is, however, evidence suggesting that PD may rarely cause JP. Gangliosidosis is another cause of L-dopa-responsive JP. Regardless of the cause, in the present study JP displays an aggressive and rapidly progressive course in most patients.
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PMID:Juvenile parkinsonism: a heterogeneous entity. 1105 29


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