Table 1 Review of Gln Repeats and SCA17 Alleles of 16 Unrelated Cases. Duplicated elements are boxed, instability by maternal (m) or paternal (p) inheritance.
Gln | Case | Repeat Composition | Comments | Ref. |
|---|---|---|---|---|
49–53 | familial | (CAG)3 (CAA)3 (CAG)41–45 CAA CAG | instability (p) | here |
63 | sporadic | (CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)9 (CAA)3 (CAG)9 CAA CAG CAA (CAG)19 CAA CAG | duplication | [7] |
47 | familial | (CAG)3 (CAA)3 (CAG)8 CAA CAG CAA (CAG)28 CAA CAG | [16] | |
47 | sporadic | (CAG)3 (CAA)3 (CAG)6 CAA CAG CAA (CAG)30 CAA CAG | ||
48 | familial | (CAG)3 (CAA)3 (CAG)6 CAA CAG CAA (CAG)31 CAA CAG | ||
55 | familial | (CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)16 CAA CAG CAA (CAG)16 CAA CAG | duplication | |
51 | familial | (CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)31 CAA CAG | [5] | |
53 – 55 | familial | (CAG)3 (CAA)3 (CAG)45–47 CAA CAG | instability (m) | |
48 | familial | (CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)28 CAA CAG | reduced penetrance | [13] |
47 | sporadic | (CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)27 CAA CAG | homozygous mutation | [15] |
46 | familial | (CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)26 CAA CAG | [21] | |
43 | (CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)26 CAA CAG | [6] | ||
53 – 66 | familial | (CAG)3 (CAA)4 (CAG)44/57 CAA CAG | instability (p) | [14] |
44 | sporadic | (CAG)3 (CAA)3 (CAG)9 CAA CAG CAA (CAG)24 CAA CAG | [12] | |
46 | sporadic | (CAG)3 (CAA)3 (CAG)11 CAA CAG CAA (CAG)24 CAA CAG | reduced penetrance | |
48 | familial | (CAG)3 (CAA)3 (CAG)6 CAA CAG CAA (CAG)31 CAA CAG | homozygous mutation | [23] |