Beyond C9orf72 : repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations
© 2024. The Author(s)..
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder which is characterized by the loss of both upper and lower motor neurons in the central nervous system. In a significant fraction of ALS cases - irrespective of family history- a genetic background may be identified. The genetic background of ALS shows a high variability from one ethnicity to another. The most frequent genetic cause of ALS is the repeat expansion of the C9orf72 gene. With the emergence of next-generation sequencing techniques and copy number alteration calling tools the focus in ALS genetics has shifted from disease causing genes and mutations towards genetic susceptibility and risk factors.In this review we aimed to summarize the most widely recognized and studied ALS linked repeat expansions and copy number variations other than the hexanucleotide repeat expansion in the C9orf72 gene. We compare and contrast their involvement and phenotype modifying roles in ALS among different populations.
Medienart: |
E-Artikel |
---|
Erscheinungsjahr: |
2024 |
---|---|
Erschienen: |
2024 |
Enthalten in: |
Zur Gesamtaufnahme - volume:17 |
---|---|
Enthalten in: |
BMC medical genomics - 17(2024), 1 vom: 22. Jan., Seite 30 |
Sprache: |
Englisch |
---|
Beteiligte Personen: |
Nagy, Zsófia Flóra [VerfasserIn] |
---|
Links: |
---|
Themen: |
ALS |
---|
Anmerkungen: |
Date Completed 12.02.2024 Date Revised 12.02.2024 published: Electronic Citation Status MEDLINE |
---|
doi: |
10.1186/s12920-024-01807-9 |
---|
funding: |
|
---|---|
Förderinstitution / Projekttitel: |
|
PPN (Katalog-ID): |
NLM367445956 |
---|
LEADER | 01000caa a22002652 4500 | ||
---|---|---|---|
001 | NLM367445956 | ||
003 | DE-627 | ||
005 | 20240212232052.0 | ||
007 | cr uuu---uuuuu | ||
008 | 240123s2024 xx |||||o 00| ||eng c | ||
024 | 7 | |a 10.1186/s12920-024-01807-9 |2 doi | |
028 | 5 | 2 | |a pubmed24n1289.xml |
035 | |a (DE-627)NLM367445956 | ||
035 | |a (NLM)38254109 | ||
040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
041 | |a eng | ||
100 | 1 | |a Nagy, Zsófia Flóra |e verfasserin |4 aut | |
245 | 1 | 0 | |a Beyond C9orf72 |b repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations |
264 | 1 | |c 2024 | |
336 | |a Text |b txt |2 rdacontent | ||
337 | |a ƒaComputermedien |b c |2 rdamedia | ||
338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
500 | |a Date Completed 12.02.2024 | ||
500 | |a Date Revised 12.02.2024 | ||
500 | |a published: Electronic | ||
500 | |a Citation Status MEDLINE | ||
520 | |a © 2024. The Author(s). | ||
520 | |a Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder which is characterized by the loss of both upper and lower motor neurons in the central nervous system. In a significant fraction of ALS cases - irrespective of family history- a genetic background may be identified. The genetic background of ALS shows a high variability from one ethnicity to another. The most frequent genetic cause of ALS is the repeat expansion of the C9orf72 gene. With the emergence of next-generation sequencing techniques and copy number alteration calling tools the focus in ALS genetics has shifted from disease causing genes and mutations towards genetic susceptibility and risk factors.In this review we aimed to summarize the most widely recognized and studied ALS linked repeat expansions and copy number variations other than the hexanucleotide repeat expansion in the C9orf72 gene. We compare and contrast their involvement and phenotype modifying roles in ALS among different populations | ||
650 | 4 | |a Journal Article | |
650 | 4 | |a Review | |
650 | 4 | |a ALS | |
650 | 4 | |a ALS genetics | |
650 | 4 | |a ATXN1 | |
650 | 4 | |a ATXN2 | |
650 | 4 | |a Amyotrophic lateral sclerosis | |
650 | 4 | |a Copy number variation | |
650 | 4 | |a Intermediate length repeat expansion | |
650 | 4 | |a NIPA1 | |
650 | 4 | |a SMN1 | |
650 | 4 | |a SMN2 | |
650 | 7 | |a C9orf72 Protein |2 NLM | |
650 | 7 | |a C9orf72 protein, human |2 NLM | |
700 | 1 | |a Pál, Margit |e verfasserin |4 aut | |
700 | 1 | |a Engelhardt, József I |e verfasserin |4 aut | |
700 | 1 | |a Molnár, Mária Judit |e verfasserin |4 aut | |
700 | 1 | |a Klivényi, Péter |e verfasserin |4 aut | |
700 | 1 | |a Széll, Márta |e verfasserin |4 aut | |
773 | 0 | 8 | |i Enthalten in |t BMC medical genomics |d 2008 |g 17(2024), 1 vom: 22. Jan., Seite 30 |w (DE-627)NLM177260793 |x 1755-8794 |7 nnns |
773 | 1 | 8 | |g volume:17 |g year:2024 |g number:1 |g day:22 |g month:01 |g pages:30 |
856 | 4 | 0 | |u http://dx.doi.org/10.1186/s12920-024-01807-9 |3 Volltext |
912 | |a GBV_USEFLAG_A | ||
912 | |a GBV_NLM | ||
951 | |a AR | ||
952 | |d 17 |j 2024 |e 1 |b 22 |c 01 |h 30 |