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001-es BibID:	BIBFORM016513
Első szerző:	Appenzeller, Silke
Cím:	Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene / Silke Appenzeller, Anja Schirmacher, Hartmut Halfter, Sebastian Bäumer, Manuela Pendziwiat, Vincent Timmerman, Peter De Jonghe, Klára Fekete, Florian Stögbauer, Peter Lüdemann, Margret Hund, Elgar Susanne Quabius, E. Bernd Ringelstein, Gregor Kuhlenbäumer
Dátum:	2010
Megjegyzések:	Autosomal-dominant striatal degeneration (ADSD) is an autosomal-dominant movement disorder affecting the striatal part of the basalganglia. ADSD is characterized by bradykinesia, dysarthria, and muscle rigidity. These symptoms resemble idiopathic Parkinson disease,but tremor is not present. Using genetic linkage analysis, we have mapped the causative genetic defect to a 3.25 megabase candidateregion on chromosome 5q13.3-q14.1. A maximum LOD score of 4.1 (Q ? 0) was obtained at marker D5S1962. Here we show thatADSD is caused by a complex frameshift mutation (c.94G>Cc.95delT) in the phosphodiesterase 8B (PDE8B) gene, which resultsin a loss of enzymatic phosphodiesterase activity. We found that PDE8B is highly expressed in the brain, especially in the putamen,which is affected by ADSD. PDE8B degrades cyclic AMP, a second messenger implied in dopamine signaling. Dopamine is one ofthe main neurotransmitters involved in movement control and is deficient in Parkinson disease. We believe that the functionalanalysis of PDE8B will help to further elucidate the pathomechanism of ADSD as well as contribute to a better understanding of movementdisorders.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Acute Stroke Organized Stroke Care Stroke Care Thrombolysis Door-toneedle
Megjelenés:	The American Journal of Human Genetics. - 86 : 1 (2010), p. 83-87. -
További szerzők:	Schirmacher, Anja Halfter, Hartmut Bäumer, Sebastian Pendziwiat, Manuela Timmerman, Vincent De Jonghe, Peter Fekete Klára (1978-) (neurológus) Stögbauer, Florian Lüdemann, Peter Hund, Margret Quabius, Elgar Susanne Ringelstein, E. Bernd Kuhlenbäumer, Gregor
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM079823
Első szerző:	Fekete Klára (neurológus)
Cím:	A novel form of distal hereditary motor neuropathy type II (distal HMN II) / K. Fekete, A. Schirmacher, E. De Vriendt, V. Timmerman, G. Kuhlenbäumer
Dátum:	2005
Megjegyzések:	Introduction: We investigated a German family with typical adult onset distal HMN II. The family contains 28 members, of whom 12 are certainly a?ected by the disease. Methods: Mutations in the coding regions of the two known genes for distal HMN (HSP22 and HSP27) were excluded by direct DNA sequencing. Other genes, causing diseases with similar phenotypes (see results) were excluded by linkage analysis using short-tandem-repeat (STR) markers within or very close to the genes. In addition, we started a genome-wide linkage screen using the ABI-Prism Linkage Mapping Set -10 containing 382 autosomal STR markers. Two point LOD scores were calculated using the program MLINK from the FASTLINK program package. Results: We did not ?nd any disease-associated mutations in the HSP22 or HSP27 genes. The candidate genes glycyl-tRNA synthetase(GARS),BerardinelliSeipCongenitalLipodystrophy2gene (BSCL2) and dynactin 1 (DCTN1) could be excluded by linkage analysis. 60% of the genome-wide linkage screen is completed, but so far, we did not ?nd any region with conclusive LOD scores. Conclusion: We excluded more than 60% of the genome and the most important known genes causing distal HMN and related phenotypes by linkage and mutation analysis. It is, therefore, probably that the family with HMN examined in this study represents a novel genetic entity.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idézhető absztrakt Hereditary neuropathy
Megjelenés:	European Journal of Neurology. - 12 : Suppl. 2 (2005), p. 118. -
További szerzők:	Schirmacher, Anja De Vriendt, E. Timmerman, Vincent Kuhlenbäumer, Gregor
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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