Table 1 Other repeat expansions associated with ALS up to date
Gene | Variant | Reference |
|---|---|---|
AR | CAG repeat expansion | PMID: 2917278 |
ATXN1 | intermediate length CAG expansion | PMID: 23197749 |
ATXN2 | intermediate length CAG expansion | PMID: 20740007 |
ATXN7 | CAG repeat expansion | PMID: 34870541 |
ATXN8OS | Noncoding repeat expansions | PMID: 30109267 |
C9orf72 | GGGGCC | PMID: 21944778, PMID: 21944779 |
CACNA1A | CAG repeat expansion | PMID: 30342765 |
CNBP | CCTG repeat expansion | PMID: 37146135 |
DMPK | CTG repeat expansion in the 3′ UTR | PMID: 37146135 |
FMR1 | CGG repeat expansion in the gene’s promoter region | PMID: 37146135 |
FXN | GAA repeat expansions | PMID: 24613765 |
HTT | CAG repeat expansion | PMID: 36285345 |
LRP12 | CGG repeat expansion | PMID: 37339631 |
NIPA1 | GCG repeat expansion | PMID: 22378146 |
NOP56 | GGCCTG expansion | PMID: 35599735 |
NOTCH2NLC | GGC repeat expansion | PMID: 32989102 |
STMN2 | CA repeat expansion | PMID: 33841129 |
TBP | CAG/CAA trinucleotide repeat expansions | PMID: 33377399 |