Cover Image

Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3

Introduction: Knowledge about the distribution and frequency of the respective haplotypes on the wildtype and mutant allele is highly relevant in the context of future gene therapy clinical studies in Spinocerebellar Ataxia Type 3, the most common autosomal dominantly inherited ataxia. Single nucleo...

Full description

Saved in:
Bibliographic Details
Main Authors: Elter, Tim (Author) , Sturm, Daniel (Author) , Santana, Magda M. (Author) , Schaprian, Tamara (Author) , Raposo, Mafalda (Author) , Melo, Ana Rosa Vieira (Author) , Lima, Manuela (Author) , Koyak, Berkan (Author) , Oender, Demet (Author) , Grobe-Einsler, Marcus (Author) , Lopes, Sara (Author) , Silva, Patrick (Author) , de Almeida, Luís Pereira (Author) , Giunti, Paola (Author) , Garcia-Moreno, Hector (Author) , Nethisinhe, Suran (Author) , de Vries, Jeroen (Author) , van de Warrenburg, Bart P. (Author) , van Gaalen, Judith (Author) , Synofzik, Matthis (Author) , Schöls, Ludger (Author) , Reetz, Kathrin (Author) , Erdlenbruch, Friedrich (Author) , Jacobi, Heike (Author) , Infante, Jon (Author) , Rieß, Olaf (Author) , Klockgether, Thomas (Author) , Timmann, Dagmar (Author) , Thieme, Andreas (Author) , Faber, Jennifer (Author) , Hübener-Schmid, Jeannette (Author)
Format: Article (Journal)
Language:English
Published: 2025
In: Journal of neurology
Year: 2024, Volume: 272, Pages: 1-12
ISSN:1432-1459
DOI:10.1007/s00415-024-12829-9
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1007/s00415-024-12829-9
Get full text
Author Notes:Tim Lukas Elter, Daniel Sturm, Magda M. Santana, Tamara Schaprian, Mafalda Raposo, Ana Rosa Vieira Melo, Manuela Lima, Berkan Koyak, Demet Oender, Marcus Grobe-Einsler, Sara Lopes, Patrick Silva, Luís Pereira de Almeida, Paola Giunti, Hector Garcia-Moreno, Suran Nethisinhe, Jeroen de Vries, Bart P. van de Warrenburg, Judith van Gaalen, Matthis Synofzik, Ludger Schöls, Kathrin Reetz, Friedrich Erdlenbruch, Heike Jacobi, Jon Infante, Olaf Riess, Thomas Klockgether, ESMI study group, Jennifer Faber, Jeannette Hübener-Schmid

MARC

LEADER 00000caa a2200000 c 4500
001 1927875331
003 DE-627
005 20250710230849.0
007 cr uuu---uuuuu
008 250610s2025 xx |||||o 00| ||eng c
024 7 |a 10.1007/s00415-024-12829-9  |2 doi 
035 |a (DE-627)1927875331 
035 |a (DE-599)KXP1927875331 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Elter, Tim  |e VerfasserIn  |0 (DE-588)1368284493  |0 (DE-627)1927875706  |4 aut 
245 1 0 |a Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3  |c Tim Lukas Elter, Daniel Sturm, Magda M. Santana, Tamara Schaprian, Mafalda Raposo, Ana Rosa Vieira Melo, Manuela Lima, Berkan Koyak, Demet Oender, Marcus Grobe-Einsler, Sara Lopes, Patrick Silva, Luís Pereira de Almeida, Paola Giunti, Hector Garcia-Moreno, Suran Nethisinhe, Jeroen de Vries, Bart P. van de Warrenburg, Judith van Gaalen, Matthis Synofzik, Ludger Schöls, Kathrin Reetz, Friedrich Erdlenbruch, Heike Jacobi, Jon Infante, Olaf Riess, Thomas Klockgether, ESMI study group, Jennifer Faber, Jeannette Hübener-Schmid 
246 3 3 |a Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type three 
264 1 |c 2025 
300 |b Illustrationen 
300 |a 12 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Veröffentlicht: 12. Dezember 2024 
500 |a Gesehen am 10.06.2025 
520 |a Introduction: Knowledge about the distribution and frequency of the respective haplotypes on the wildtype and mutant allele is highly relevant in the context of future gene therapy clinical studies in Spinocerebellar Ataxia Type 3, the most common autosomal dominantly inherited ataxia. Single nucleotide polymorphisms associated to the disease-causing gene, ATXN3, have been determined. We wanted to investigate the frequency and regional distribution of two intragenic single nucleotide polymorphisms (SNPs) in a large European SCA3 cohort and their relation to the clinical phenotype. Methods: The genotypes of the two polymorphisms at base pair positions 987 and 1118 of the ATXN3 were determined for their co-localization on the normal and expanded allele, respectively, in 286 SCA3 mutation carriers and 117 healthy controls from 11 European sites. Results: The distribution of genotypes on the expanded allele differed from those of the wildtype allele of SCA3 mutation carriers and of healthy controls, and was mainly influenced by the regional origin. In our cohort, no particular clinical phenotype was associated with any specific haplotype. Conclusions: Our results confirm distinct allocations of SNPs associated to the expanded ATXN3, and accordingly the consideration of allele-specific therapies. 
650 4 |a ASO 
650 4 |a ATXN3 
650 4 |a Gene Mutation 
650 4 |a Genetic association study 
650 4 |a Genotype 
650 4 |a Haplotypes 
650 4 |a Huntington's disease 
650 4 |a Polymorphism 
650 4 |a SCA3 
650 4 |a SNP 
650 4 |a Spinocerebellar ataxia 
700 1 |a Sturm, Daniel  |e VerfasserIn  |4 aut 
700 1 |a Santana, Magda M.  |e VerfasserIn  |4 aut 
700 1 |a Schaprian, Tamara  |e VerfasserIn  |4 aut 
700 1 |a Raposo, Mafalda  |e VerfasserIn  |4 aut 
700 1 |a Melo, Ana Rosa Vieira  |e VerfasserIn  |4 aut 
700 1 |a Lima, Manuela  |e VerfasserIn  |4 aut 
700 1 |a Koyak, Berkan  |e VerfasserIn  |4 aut 
700 1 |a Oender, Demet  |e VerfasserIn  |4 aut 
700 1 |a Grobe-Einsler, Marcus  |e VerfasserIn  |4 aut 
700 1 |a Lopes, Sara  |e VerfasserIn  |4 aut 
700 1 |a Silva, Patrick  |e VerfasserIn  |4 aut 
700 1 |a de Almeida, Luís Pereira  |e VerfasserIn  |4 aut 
700 1 |a Giunti, Paola  |e VerfasserIn  |4 aut 
700 1 |a Garcia-Moreno, Hector  |e VerfasserIn  |4 aut 
700 1 |a Nethisinhe, Suran  |e VerfasserIn  |4 aut 
700 1 |a de Vries, Jeroen  |e VerfasserIn  |4 aut 
700 1 |a van de Warrenburg, Bart P.  |e VerfasserIn  |4 aut 
700 1 |a van Gaalen, Judith  |e VerfasserIn  |4 aut 
700 1 |8 1\p  |a Synofzik, Matthis  |d 1979-  |e VerfasserIn  |0 (DE-588)136837247  |0 (DE-627)587805188  |0 (DE-576)301302022  |4 aut 
700 1 |8 2\p  |a Schöls, Ludger  |d 1962-  |e VerfasserIn  |0 (DE-588)1035530619  |0 (DE-627)749545976  |0 (DE-576)383251133  |4 aut 
700 1 |8 3\p  |a Reetz, Kathrin  |e VerfasserIn  |0 (DE-588)1017206201  |0 (DE-627)676274129  |0 (DE-576)35328789X  |4 aut 
700 1 |a Erdlenbruch, Friedrich  |e VerfasserIn  |4 aut 
700 1 |a Jacobi, Heike  |e VerfasserIn  |0 (DE-588)1163027812  |0 (DE-627)1027272150  |0 (DE-576)507747666  |4 aut 
700 1 |a Infante, Jon  |e VerfasserIn  |4 aut 
700 1 |8 4\p  |a Rieß, Olaf  |d 1959-  |e VerfasserIn  |0 (DE-588)120266008  |0 (DE-627)577155768  |0 (DE-576)292127782  |4 aut 
700 1 |a Klockgether, Thomas  |e VerfasserIn  |4 aut 
700 1 |a Timmann, Dagmar  |e VerfasserIn  |4 aut 
700 1 |a Thieme, Andreas  |e VerfasserIn  |4 aut 
700 1 |a Faber, Jennifer  |e VerfasserIn  |4 aut 
700 1 |a Hübener-Schmid, Jeannette  |e VerfasserIn  |4 aut 
773 0 8 |i Enthalten in  |t Journal of neurology  |d [Darmstadt] : Steinkopff, 1974  |g 272(2024), Artikel-ID 54, Seite 1-12  |h Online-Ressource  |w (DE-627)242065155  |w (DE-600)1421299-7  |w (DE-576)065026500  |x 1432-1459  |7 nnas  |a Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3 
773 1 8 |g volume:272  |g year:2024  |g elocationid:54  |g pages:1-12  |g extent:12  |a Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3 
856 4 0 |u https://doi.org/10.1007/s00415-024-12829-9  |x Verlag  |x Resolving-System  |z kostenfrei  |3 Volltext 
883 |8 1\p  |a cgwrk  |d 20250701  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 2\p  |a cgwrk  |d 20250701  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 3\p  |a cgwrk  |d 20250701  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 4\p  |a cgwrk  |d 20250701  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
951 |a AR 
992 |a 20250610 
993 |a Article 
994 |a 2025 
998 |g 1163027812  |a Jacobi, Heike  |m 1163027812:Jacobi, Heike  |d 910000  |d 911100  |d 50000  |e 910000PJ1163027812  |e 911100PJ1163027812  |e 50000PJ1163027812  |k 0/910000/  |k 1/910000/911100/  |k 0/50000/  |p 24 
999 |a KXP-PPN1927875331  |e 4732902111 
BIB |a Y 
SER |a journal 
JSO |a {"id":{"eki":["1927875331"],"doi":["10.1007/s00415-024-12829-9"]},"physDesc":[{"noteIll":"Illustrationen","extent":"12 S."}],"note":["Veröffentlicht: 12. Dezember 2024","Gesehen am 10.06.2025"],"type":{"media":"Online-Ressource","bibl":"article-journal"},"relHost":[{"part":{"text":"272(2024), Artikel-ID 54, Seite 1-12","extent":"12","volume":"272","year":"2024","pages":"1-12"},"note":["Gesehen am 14.03.25","Ungezählte Beil.: Supplement"],"physDesc":[{"extent":"Online-Ressource"}],"id":{"issn":["1432-1459"],"eki":["242065155"],"zdb":["1421299-7"]},"type":{"media":"Online-Ressource","bibl":"periodical"},"pubHistory":["Volume 207, issue 1 (March 1974)-"],"language":["eng","ger"],"origin":[{"publisher":"Steinkopff ; Springer ; Steinkopff [u.a.] ; Springer-Medizin-Verl.","publisherPlace":"[Darmstadt] ; Berlin ; Heidelberg [u.a.] ; Darmstadt ; Heidelberg","dateIssuedDisp":"1974-","dateIssuedKey":"1974"}],"disp":"Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3Journal of neurology","recId":"242065155","title":[{"title_sort":"Journal of neurology","title":"Journal of neurology"}]}],"person":[{"roleDisplay":"VerfasserIn","family":"Elter","display":"Elter, Tim","role":"aut","given":"Tim"},{"display":"Sturm, Daniel","family":"Sturm","role":"aut","given":"Daniel","roleDisplay":"VerfasserIn"},{"family":"Santana","display":"Santana, Magda M.","given":"Magda M.","role":"aut","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","given":"Tamara","role":"aut","display":"Schaprian, Tamara","family":"Schaprian"},{"family":"Raposo","display":"Raposo, Mafalda","role":"aut","given":"Mafalda","roleDisplay":"VerfasserIn"},{"given":"Ana Rosa Vieira","role":"aut","family":"Melo","display":"Melo, Ana Rosa Vieira","roleDisplay":"VerfasserIn"},{"family":"Lima","display":"Lima, Manuela","role":"aut","given":"Manuela","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","role":"aut","given":"Berkan","display":"Koyak, Berkan","family":"Koyak"},{"roleDisplay":"VerfasserIn","role":"aut","given":"Demet","display":"Oender, Demet","family":"Oender"},{"roleDisplay":"VerfasserIn","display":"Grobe-Einsler, Marcus","family":"Grobe-Einsler","role":"aut","given":"Marcus"},{"role":"aut","given":"Sara","display":"Lopes, Sara","family":"Lopes","roleDisplay":"VerfasserIn"},{"display":"Silva, Patrick","family":"Silva","given":"Patrick","role":"aut","roleDisplay":"VerfasserIn"},{"family":"de Almeida","display":"de Almeida, Luís Pereira","role":"aut","given":"Luís Pereira","roleDisplay":"VerfasserIn"},{"family":"Giunti","display":"Giunti, Paola","role":"aut","given":"Paola","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","given":"Hector","role":"aut","display":"Garcia-Moreno, Hector","family":"Garcia-Moreno"},{"roleDisplay":"VerfasserIn","role":"aut","given":"Suran","family":"Nethisinhe","display":"Nethisinhe, Suran"},{"roleDisplay":"VerfasserIn","family":"de Vries","display":"de Vries, Jeroen","given":"Jeroen","role":"aut"},{"roleDisplay":"VerfasserIn","display":"van de Warrenburg, Bart P.","family":"van de Warrenburg","role":"aut","given":"Bart P."},{"roleDisplay":"VerfasserIn","given":"Judith","role":"aut","family":"van Gaalen","display":"van Gaalen, Judith"},{"role":"aut","given":"Matthis","display":"Synofzik, Matthis","family":"Synofzik","roleDisplay":"VerfasserIn"},{"given":"Ludger","role":"aut","display":"Schöls, Ludger","family":"Schöls","roleDisplay":"VerfasserIn"},{"role":"aut","given":"Kathrin","family":"Reetz","display":"Reetz, Kathrin","roleDisplay":"VerfasserIn"},{"display":"Erdlenbruch, Friedrich","family":"Erdlenbruch","role":"aut","given":"Friedrich","roleDisplay":"VerfasserIn"},{"role":"aut","given":"Heike","display":"Jacobi, Heike","family":"Jacobi","roleDisplay":"VerfasserIn"},{"display":"Infante, Jon","family":"Infante","given":"Jon","role":"aut","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","role":"aut","given":"Olaf","family":"Rieß","display":"Rieß, Olaf"},{"family":"Klockgether","display":"Klockgether, Thomas","role":"aut","given":"Thomas","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","given":"Dagmar","role":"aut","family":"Timmann","display":"Timmann, Dagmar"},{"roleDisplay":"VerfasserIn","given":"Andreas","role":"aut","family":"Thieme","display":"Thieme, Andreas"},{"roleDisplay":"VerfasserIn","family":"Faber","display":"Faber, Jennifer","role":"aut","given":"Jennifer"},{"family":"Hübener-Schmid","display":"Hübener-Schmid, Jeannette","role":"aut","given":"Jeannette","roleDisplay":"VerfasserIn"}],"language":["eng"],"recId":"1927875331","origin":[{"dateIssuedDisp":"2025","dateIssuedKey":"2025"}],"title":[{"title":"Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3","title_sort":"Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3"}],"titleAlt":[{"title":"Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type three"}],"name":{"displayForm":["Tim Lukas Elter, Daniel Sturm, Magda M. Santana, Tamara Schaprian, Mafalda Raposo, Ana Rosa Vieira Melo, Manuela Lima, Berkan Koyak, Demet Oender, Marcus Grobe-Einsler, Sara Lopes, Patrick Silva, Luís Pereira de Almeida, Paola Giunti, Hector Garcia-Moreno, Suran Nethisinhe, Jeroen de Vries, Bart P. van de Warrenburg, Judith van Gaalen, Matthis Synofzik, Ludger Schöls, Kathrin Reetz, Friedrich Erdlenbruch, Heike Jacobi, Jon Infante, Olaf Riess, Thomas Klockgether, ESMI study group, Jennifer Faber, Jeannette Hübener-Schmid"]}} 
SRT |a ELTERTIMSTREGIONALDI2025 

Similar Items