Mutation | Sex | Years at onset | Years at exam | Gait ataxia | Limb ataxia | Dysarthria | Nystagmus | Ophthalmo | Increased reflexes in LL | Ptosis | MRI years at exam |
M666T | F | 23 | 50 | ++ | + | + | + | ++ | – | – | CA and VA: 56. |
F664S (p1) | M | 34 | 39 | + | + | – | + | – | + | – | Mild CA: 37. |
F664S (p2) | F | 30 | 65 | +++ | +++ | ++ | NA | NA | NA | – | NA |
G671R | M | 40 | 64 | +++ | +++ | + | – | ++ | ++ | ++ | CA and VA: 60. |
L556fs (p1) | M | 36 | 49 | ++ | ++ | ++ | ++ | ++ | ++ | ++ | CA: 46; VA: 48. |
L556fs (p2) | M | 35 | 54 | ++ | ++ | ++ | – | ++ | ++ | – | CA: 36; VA: 53. |
Y689H | M | 43 | 60 | ++ | + | ++ | – | – | – | – | N |
Symbols: +,present and mild; ++, present and moderate; +++, present and severe; −, absent; CA, cerebellar atrophy; LL, lower limbs; NA, not available; , ; VA, vermis atrophy.