Publication
Title
The genetics of C9orf72 expansions
Author
Abstract
Repeat expansions in the promoter region of C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and related disorders of the ALS/frontotemporal lobar degeneration (FTLD) spectrum. Remarkable clinical heterogeneity among patients with a repeat expansion has been observed, and genetic anticipation over different generations has been suggested. Genetic factors modifying the clinical phenotype have been proposed, including genetic variation in other known disease genes, the genomic context of the C9orf72 repeat, and expanded repeat size, which has been estimated between 45 and several thousand units. The role of variability in normal and expanded repeat sizes for disease risk and clinical phenotype is under debate. Different pathogenic mechanisms have been proposed, including loss of function, RNA toxicity, and dipeptide repeat (DPR) protein toxicity resulting from abnormal translation of the expanded repeat, but the major mechanism is yet unclear.
Language
English
Source (journal)
Cold Spring Harbor perspectives in medicine / Cold Spring Harbor Laboratory. Press. - [Woodbury, NY], 2011, currens
Publication
[Woodbury, NY] : Cold Spring Harbor Laboratory Press , 2018
ISSN
2157-1422
Volume/pages
8 :4 (2018) , 16 p.
Article Reference
a026757
ISI
000436064600002
Pubmed ID
28130313
Medium
E-only publicatie
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 10.07.2018
Last edited 20.09.2021
To cite this reference