Table 2 Mutations in the ATL1 gene.
Case | onset age (Years) | Phenotype/Inheritance | GEN | Exon | Mutation | Protein | Reference |
|---|---|---|---|---|---|---|---|
57.1 | 1 | Pure- SHSP | ATL1 | 4 | c.460 C>G | p.Gln154Glu | This study |
97 | 8 | Pure-ADHSP | ATL1 | 7 | c.715C>T | p.Arg239Cys | [47] |
102 | 4 | Pure-ADHSP | ATL1 | 7 | c.715C>T | p.Arg239Cys | [47] |
220 | 3 | Pure-ADHSP | ATL1 | 7 | c.715C>T | p.Arg239Cys | [47] |
279 | 5 | Pure-ADHSP | ATL1 | 7 | c.715C>T | p.Arg239Cys | [47] |
64 | 10 | Pure-ADHSP | ATL1 | 8 | c.757 G>A | p.Val253Ile | [25] |
159 | 5 | Pure-ADHSP | ATL1 | 12 | c.1483c>T | p.Arg495Trp | [25] |
110 | 17 | Pure-ADHSP | ATL1 | 12 | c.1319A->C | p.Asn440Thr | [25] |
232 | 6 | Pure-ADHSP | ATL1 | 12 | c.1237T->G | p.Phe413Val | This study |
233 | 16 | Complicated-ADHSP | ATL1 | 12 | c.1243 C->T | p.Arg415Trp | [40] |