Table 2.
List of diseases for which cerebellar ataxia is associated with other main clinical features
| Clinical feature | Diseases |
|---|---|
| Chorea |
ATX–ATM, ATX–APTX, ATX–SETX, ATX–MRE11A, ATX–OPA3 NBIA/DYT/PARK-CP XFE/ERCC4 SCA2/ATXN2 (large CAG expansion) SCA17/TBP, DRPLA/ATN1 (in the course of the disease) SCA48/STUB1 |
| Myoclonus |
ATX–ADCK3 MYC/ATX–GOSR2, MYC–SCARB2, MYC/ATX–KCTD7, MYC/ATX–NEU1 PRICKLE1 SCA2/ATXN2, DRPLA/ATN1 SCA13/KCNC3, SCA14/PRKCG, SCA19/KCND3, SCA21/TMEM240 |
| Dystonia |
ATX–ATM, ATX–APTX, ATX–SETX, ATX–NPC ATX/HSP–HEXA, ATX/HSP–HEXB, NBIA/DYT/PARK–PLA2G6 PNKP, MARS2 HSP/ATX/NBIA–FA2H DYT/ATX–ATP7B SCA2/ATXN2, SCA3/ATXN3, SCA17/TBP DYT/PARK/NBIA–PLA2G6 ATX–POLR3A/ATX–POLR3B |
| Parkinsonism |
ATX–ATM, ATX–CYP27A1 POLG DYT/ATX–ATP7B NBIA/DYT/PARK–PLA2G6 Fragile X-associated tremor ataxia syndrome (FXTAS) SCA2/ATXN2, SCA3/ATXN3, SCA17/TBP DYT/PARK/NBIA–PLA2G6 |
| Spastic paraplegia |
ATX–CYP27A1, ATX/HSP–SACS, ATX/HSP–SPG7, ATX/HSP–POLR3A, ATX/HSP–CLCN2, HSP/ATX/NBIA–FA2H MARS2, GBE1, MTPAP, ATX/HSP–DARS2, HSD17B4 DYT/PARK/NBIA–PLA2G6 |
| Pyramidal signs |
ATX–ANO10 SCA1/ATXN1, SCA3 /ATXN3, SCA7/ATXN7, SCA17/TBP SCA8/ATXN8, SCA10/ATXN10, SCA14/PRKCG, SCA15/ITPR1 SCA35/TGM6, SCA40/CCDC88C, SCA43/MME ATX–POLR3A/ATX–POLR3B |
| Oculomotor apraxia |
ATX–ATM, ATX–APTX, ATX–SETX, ATX–MRE11 AOA4/PNKP |
| Strabismus or diplopia |
ATX–SETX SCA3/ATXN3 |
| Square wave jerks |
ATX–FXN, POLG FXTAS SCA3/ATXN3 |
| Hypometric, slow saccades | SCA2/ATXN2 |
| Vertical supranuclear saccades palsy | ATX–NPC, ATX/HSP–SACS, ATX–STUB1 |
| Intellectual deficiency |
ATX–GRID2, ATX–L2HGDH, ATX–POLR3A, ATX–APTX ATX–KIAA0226, SCAR12/WWOX, ATX–SNX14, SCAR22/VWA3B, SCAR23/TDP2, MYC/ATX–KCTD7, ATX–PEX10, ATX/MYC–TPP1, ATX–SPTBN2, MARS2, ACO2, ATX–WDR73, MGR1, ATX–PMPCA, ATX–POLR3B, ATX–KCNJ10, SPAX4/MTPAP, OPA3, ATX–VLDLR, SCAR5/WDR73, ATX–CA8, ATX–BTD, NBIA/DYT/PARK–PLA2G6, SCA13/KCNC3, SCA19–22/KCND3, SCA21/TMEM240 |
| Cognitive decline |
ATX–NPC, ATX–CYP27A1, ATX–ANO10, ATX/HSP–PNPLA6, ATX–ADCK3 NBIA/DYT/PARK–CP, MYC/ATX–KCTD7, GRM1, NBIA/DYT/PARK–PLA2G6 SCA2/ATXN2, SCA17/TBP, DRPLA/ATN1, SCA48/STUB1 FXTAS |