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14. Variable course of Canavan disease in two boys with early infantile aspartoacylase deficiency

Author

Moers, A. v., Sperner, J., Michael, Th., Scheffner, D., and Schutgens, R.H.B.

Subjects
Genetic disorders -- Complications, Transferases -- Abnormalities, Health
Abstract

Canavan disease is a rare genetic disorder in which there is a deficiency of an important enzyme (aspartoacylase) that breaks down N-acetyl-aspartate (NAA), a metabolite found in the central nervous system. The disease leads to a gradual deterioration of the nervous system and demyelination of brain tissue. Little is known about the actual mechanism by which the degeneration occurs and there are no specific treatments for the disease. Carriers of the genetic defect can be identified and prenatal diagnosis can be made. This study examined the cases of two boys afflicted with Canavan disease. The first case involved an infant born with a much greater than normal head circumference. His first few weeks of life were normal, but his nervous system began to gradually deteriorate. At two years of age, he was severely impaired and his head circumference well above normal. Tests showed that he excreted large amounts of NAA in his urine and that aspartoacylase had very low activity. Brain abnormalities were seen on diagnostic imaging at two months of age and they increased in severity with age. In the second case, the child was normal at birth and no problems appeared until he was three months of age. These problems were mild and lessened over the next few months, but developmental arrest began when he was about 15 months of age. His head size gradually increased beyond the normal range for his age group. Diagnostic imaging did not show brain abnormalities until after age one, when tests revealed excessive NAA in the urine and low enzyme activity. These results indicate that Canavan disease may manifest itself in different ways and that some symptoms may be similar to those of other disorders. If there are indications of Canavan disease, the disease should not be ruled out when there is no neurological deterioration during the first year of life and the head circumference is increasing, but still remains in the normal range. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

21. Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

Author

Reutlinger, C., Helbig, I., Gawelczyk, B., Subero, J.I., Tonnies, H., Muhle, H., Finsterwalder, K., Vermeer, S., Pfundt, R., Sperner, J., Stefanova, I., Gillessen-Kaesbach, G., Spiczak, S. von, Baalen, A. van, Boor, R., Siebert, R., Stephani, U., and Caliebe, A.

Subjects
Genomic disorders and inherited multi-system disorders [IGMD 3], nervous system diseases
Abstract

Contains fulltext : 88225.pdf (Publisher’s version ) (Closed access) Seizure disorders of the rolandic region comprise a spectrum of different epilepsy syndromes ranging from benign rolandic epilepsy to more severe seizure disorders including atypical benign partial epilepsy/pseudo-Lennox syndrome,electrical status epilepticus during sleep, and Landau-Kleffner syndrome. Centrotemporal spikes are the unifying electroencephalographic hallmark of these benign focal epilepsies, indicating a pathophysiologic relationship between the various epilepsies arising from the rolandic region. The etiology of these epilepsies is elusive, but a genetic component is assumed given the heritability of the characteristic electrographic trait. Herein we report on three patients with intellectual disability, various dysmorphic features, and epilepsies involving the rolandic region, carrying previously undescribed deletions in 16p13. The only gene located in the critical region shared by all three patients is GRIN2A coding for the alpha-2 subunit of the neuronal N-methyl-D-aspartate(NMDA) receptor. 01 september 2010

Published
2010

27. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

Author

Beltran Valero de Bernabe, D., Voit, T., Longman, C., Steinbrecher, A., Straub, V., Yuva, Y., Herrmann, R., Sperner, J., Korenke, C.G., Diesen, C., Dobyns, W.B., Brunner, H.G., Bokhoven, J.H.L.M. van, Brockington, M., Muntoni, F., Beltran Valero de Bernabe, D., Voit, T., Longman, C., Steinbrecher, A., Straub, V., Yuva, Y., Herrmann, R., Sperner, J., Korenke, C.G., Diesen, C., Dobyns, W.B., Brunner, H.G., Bokhoven, J.H.L.M. van, Brockington, M., and Muntoni, F.

Abstract

Contains fulltext : 58690.pdf (publisher's version ) (Closed access)

Published
2004

40. Mind and behaviour in children and young adults with monotherapy of the antipeleptic drugs valproic acid, carbamazepine and sultiam

Author

Bendl, C, primary, Wagner, S, additional, Schnellbacher, S, additional, Gerstner, T, additional, Altenmüller, S, additional, Bast, T, additional, Bosch, F, additional, Feldmann, E, additional, Golla, G, additional, Peters, C, additional, Sperner, J, additional, Traus, M, additional, Treiss, I, additional, and König, S, additional

Published
2006
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