Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers
Background: ALS patients with a negative family history (sporadic ALS, SALS) represent more than 90% of all ALS cases. In light of the gene-specific therapies that are currently in development for ALS, knowledge about the genetic landscape of SALS in Germany is urgently needed. Objectives: We aimed...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
17 Jan 2023
|
| In: |
Amyotrophic lateral sclerosis & frontotemporal degeneration
Year: 2023, Jahrgang: 24, Heft: 5/6, Pages: 414-419 |
| ISSN: | 2167-9223 |
| DOI: | 10.1080/21678421.2023.2165946 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1080/21678421.2023.2165946 Verlag, kostenfrei, Volltext: https://www.tandfonline.com/doi/full/10.1080/21678421.2023.2165946 
|
| Verfasserangaben: | Rüstem Yilmaz, Torsten Grehl, Lukas Eckrich, Ines Marschalkowski, Kanchi Weishaupt, Ivan Valkadinov, Melita Simic, David Brenner, Peter M. Andersen, Joachim Wolf & Jochen H. Weishaupt |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1903716411 | ||
| 003 | DE-627 | ||
| 005 | 20241205174618.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240930s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1080/21678421.2023.2165946 |2 doi | |
| 035 | |a (DE-627)1903716411 | ||
| 035 | |a (DE-599)KXP1903716411 | ||
| 035 | |a (OCoLC)1475313335 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Yılmaz, Rüstem |e VerfasserIn |0 (DE-588)1137641770 |0 (DE-627)177132824X |0 (DE-576)491677960 |4 aut | |
| 245 | 1 | 0 | |a Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers |c Rüstem Yilmaz, Torsten Grehl, Lukas Eckrich, Ines Marschalkowski, Kanchi Weishaupt, Ivan Valkadinov, Melita Simic, David Brenner, Peter M. Andersen, Joachim Wolf & Jochen H. Weishaupt |
| 264 | 1 | |c 17 Jan 2023 | |
| 300 | |b Illustrationen | ||
| 300 | |a 6 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 30.09.2024 | ||
| 520 | |a Background: ALS patients with a negative family history (sporadic ALS, SALS) represent more than 90% of all ALS cases. In light of the gene-specific therapies that are currently in development for ALS, knowledge about the genetic landscape of SALS in Germany is urgently needed. Objectives: We aimed to determine the frequency of C9orf72 hexanucleotide repeat expansion (HRE) and SOD1 mutations among patients in Germany with a diagnosis of sporadic or idiopathic ALS. Methods: We genotyped SALS patients from three German ALS centers. Sanger sequencing, fragment length analysis, and repeat-primed PCR technologies were used to detect mutations in SOD1 and C9orf72 HRE. Pathological C9orf72 HRE results were confirmed in an independent laboratory. Results: In 302 patients with SALS, 27 (8.9%) patients with a C9orf72 HRE mutation were detected. Moreover, we identified two patients with a pathogenic SOD1 mutation, one patient with a heterozygous p.D91A mutation in SOD1, and three additional patients with rare SOD1 variants not predicted to change the amino acid sequence. Conclusions: According to our data, the proportion of SALS patients with SOD1 mutations is in the expected range, whereas that with C9orf72 HRE is higher, suggesting a reduced penetrance. A considerable number of SALS patients can be amenable to gene-specific therapies. | ||
| 650 | 4 | |a Amyotrophic lateral sclerosis | |
| 650 | 4 | |a motor neuron disease | |
| 650 | 4 | |a neurodegeneration | |
| 650 | 4 | |a neurogenetics | |
| 650 | 4 | |a sporadic ALS | |
| 700 | 1 | |a Grehl, Torsten |d 1968- |e VerfasserIn |0 (DE-588)113758480 |0 (DE-627)69119551X |0 (DE-576)349662924 |4 aut | |
| 700 | 1 | |a Eckrich, Lukas |d 1995- |e VerfasserIn |0 (DE-588)1342437330 |0 (DE-627)1902985567 |4 aut | |
| 700 | 1 | |a Marschalkowski, Ines |e VerfasserIn |4 aut | |
| 700 | 1 | |a Weishaupt, Kanchi |e VerfasserIn |0 (DE-588)1275171648 |0 (DE-627)1826735496 |4 aut | |
| 700 | 1 | |a Valkadinov, Ivan |e VerfasserIn |0 (DE-588)1275314384 |0 (DE-627)1826773231 |4 aut | |
| 700 | 1 | |a Simic, Melita |d 1994- |e VerfasserIn |0 (DE-588)134356736X |0 (DE-627)1903717647 |4 aut | |
| 700 | 1 | |a Brenner, David |d 1986- |e VerfasserIn |0 (DE-588)1077188838 |0 (DE-627)836099753 |0 (DE-576)446029262 |4 aut | |
| 700 | 1 | |a Andersen, Peter M. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Wolf, Joachim |d 1968- |e VerfasserIn |0 (DE-588)1082553581 |0 (DE-627)847637174 |0 (DE-576)455506590 |4 aut | |
| 700 | 1 | |a Weishaupt, Jochen H. |d 1971- |e VerfasserIn |0 (DE-588)122148924 |0 (DE-627)705789039 |0 (DE-576)293117810 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Amyotrophic lateral sclerosis & frontotemporal degeneration |d Abingdon : Taylor Francis Group, 2013 |g 24(2023), 5/6, Seite 414-419 |h Online-Ressource |w (DE-627)737292997 |w (DE-600)2705061-0 |w (DE-576)379474158 |x 2167-9223 |7 nnas |a Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers |
| 773 | 1 | 8 | |g volume:24 |g year:2023 |g number:5/6 |g pages:414-419 |g extent:6 |a Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers |
| 856 | 4 | 0 | |u https://doi.org/10.1080/21678421.2023.2165946 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://www.tandfonline.com/doi/full/10.1080/21678421.2023.2165946 |x Verlag |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20240930 | ||
| 993 | |a Article | ||
| 994 | |a 2023 | ||
| 998 | |g 122148924 |a Weishaupt, Jochen H. |m 122148924:Weishaupt, Jochen H. |d 60000 |d 62700 |e 60000PW122148924 |e 62700PW122148924 |k 0/60000/ |k 1/60000/62700/ |p 11 |y j | ||
| 998 | |g 1077188838 |a Brenner, David |m 1077188838:Brenner, David |d 60000 |d 62700 |e 60000PB1077188838 |e 62700PB1077188838 |k 0/60000/ |k 1/60000/62700/ |p 8 | ||
| 998 | |g 134356736X |a Simic, Melita |m 134356736X:Simic, Melita |d 60000 |d 62700 |e 60000PS134356736X |e 62700PS134356736X |k 0/60000/ |k 1/60000/62700/ |p 7 | ||
| 998 | |g 1275314384 |a Valkadinov, Ivan |m 1275314384:Valkadinov, Ivan |d 60000 |e 60000PV1275314384 |k 0/60000/ |p 6 | ||
| 998 | |g 1275171648 |a Weishaupt, Kanchi |m 1275171648:Weishaupt, Kanchi |d 60000 |d 62700 |e 60000PW1275171648 |e 62700PW1275171648 |k 0/60000/ |k 1/60000/62700/ |p 5 | ||
| 998 | |g 1342437330 |a Eckrich, Lukas |m 1342437330:Eckrich, Lukas |d 60000 |d 62700 |e 60000PE1342437330 |e 62700PE1342437330 |k 0/60000/ |k 1/60000/62700/ |p 3 | ||
| 998 | |g 1137641770 |a Yılmaz, Rüstem |m 1137641770:Yılmaz, Rüstem |d 60000 |d 62700 |e 60000PY1137641770 |e 62700PY1137641770 |k 0/60000/ |k 1/60000/62700/ |p 1 |x j | ||
| 999 | |a KXP-PPN1903716411 |e 4584608245 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"person":[{"display":"Yılmaz, Rüstem","family":"Yılmaz","given":"Rüstem","role":"aut"},{"display":"Grehl, Torsten","given":"Torsten","role":"aut","family":"Grehl"},{"display":"Eckrich, Lukas","role":"aut","given":"Lukas","family":"Eckrich"},{"family":"Marschalkowski","given":"Ines","role":"aut","display":"Marschalkowski, Ines"},{"display":"Weishaupt, Kanchi","family":"Weishaupt","role":"aut","given":"Kanchi"},{"family":"Valkadinov","given":"Ivan","role":"aut","display":"Valkadinov, Ivan"},{"role":"aut","given":"Melita","family":"Simic","display":"Simic, Melita"},{"display":"Brenner, David","family":"Brenner","role":"aut","given":"David"},{"display":"Andersen, Peter M.","family":"Andersen","role":"aut","given":"Peter M."},{"display":"Wolf, Joachim","given":"Joachim","role":"aut","family":"Wolf"},{"display":"Weishaupt, Jochen H.","family":"Weishaupt","given":"Jochen H.","role":"aut"}],"title":[{"title_sort":"Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers","title":"Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers"}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"physDesc":[{"extent":"6 S.","noteIll":"Illustrationen"}],"language":["eng"],"id":{"doi":["10.1080/21678421.2023.2165946"],"eki":["1903716411"]},"origin":[{"dateIssuedKey":"2023","dateIssuedDisp":"17 Jan 2023"}],"name":{"displayForm":["Rüstem Yilmaz, Torsten Grehl, Lukas Eckrich, Ines Marschalkowski, Kanchi Weishaupt, Ivan Valkadinov, Melita Simic, David Brenner, Peter M. Andersen, Joachim Wolf & Jochen H. Weishaupt"]},"recId":"1903716411","note":["Gesehen am 30.09.2024"],"relHost":[{"disp":"Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centersAmyotrophic lateral sclerosis & frontotemporal degeneration","recId":"737292997","part":{"pages":"414-419","volume":"24","extent":"6","text":"24(2023), 5/6, Seite 414-419","issue":"5/6","year":"2023"},"id":{"eki":["737292997"],"zdb":["2705061-0"],"issn":["2167-9223"]},"origin":[{"dateIssuedDisp":"2013-","dateIssuedKey":"2013","publisher":"Taylor Francis Group ; Informa Healthcare","publisherPlace":"Abingdon ; London"}],"pubHistory":["14.2013 -"],"physDesc":[{"extent":"Online-Ressource"}],"language":["eng"],"type":{"bibl":"periodical","media":"Online-Ressource"},"titleAlt":[{"title":"ALS"},{"title":"Amyotrophic lateral sclerosis and frontotemporal degeneration"}],"note":["Gesehen am 20.11.18"],"title":[{"subtitle":"ALS ; official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases","title":"Amyotrophic lateral sclerosis & frontotemporal degeneration","title_sort":"Amyotrophic lateral sclerosis & frontotemporal degeneration"}]}]} | ||
| SRT | |a YILMAZRUESFREQUENCYO1720 | ||