Table 2.
EOA gene mutations with (a) and respectively without comorbid dystonia (b).
| a. with comorbid dystonia | |||
| Gene mutation | |||
| TUBB2A (n = 1) | ATXN7 (n = 1) | LAMA1A (n = 1) | |
| FTX (n = 9) | KCNC3 (n = 1) | CHD7 (n = 1) | |
| INPPE5 (n = 1) | ATM (n = 1) | LYST (n = 1) | |
| ATP1A3 (n = 3) | CAMTA1 (n = 1) | HSD17B10 (n = 1) | |
| TTPA (n = 3) | NARP (n = 1) | HADDS (n = 1) | |
| CACNA1A (n = 3) | ZMYND11 (n = 1) | CTNNB1 (n = 1) | |
| GOSR2 (n = 2) | ALDH3A2 (n = 1) | HTT (n = 1) | |
| SPTBN2 (n = 2) | TITF1 (n = 1) | SPG11 (n = 1) | |
| KIAA0586 (n = 2) | NPC (n = 1) | * unknown (n = 12) | |
| b. without comorbid dystonia | |||
| Gene Mutation | |||
| KCND3 (n = 1) | CACNA1A (n = 2) | ||
| FTX (n = 3) | SPG11 (n = 1) | ||
| GOSR2 (n = 3) | ** unknown (n = 3) | ||
| ITPR1 (n = 3) | |||
Legends: * unknown (n = 12) = unknown/absent gene mutation in association with malformation of fossa posterior (n = 2); LYST = Cediak Higashi syndrome (n = 1); no clinical diagnosis (n = 9); ** unknown (n=3) = unknown/absent gene mutation in association with malformation of fossa posterior (n = 1); no clinical diagnosis (n = 2). The gene mutations CACNA1A, FTX and GOSR2 were present in clinical cases with and without comorbid dystonia. Cases with a congenital malformation of the fossa posterior were both associated with and without comorbid dystonia.