Table 1. A summary of se veral CA subtypes, associated OMIM number, mutated genes, and function of the affected protein.
| Disease | OMIM | Gene | Protein function |
|---|---|---|---|
| ADCAs | |||
| Repeat expansions in exons
| |||
| DRPLA | 125370 | ATN1 | Transcriptional corepressor |
| HD | 143100 | HTT | Microtubule-mediated vesicle transport |
| HDL1 | 603218 | PRNP | Copper iron; microtubule binding |
| HDL2 | 606438 | JPH3 | Calcium-release channel activity |
| SCA1 | 164400 | ATXN1 | Nucleic acid binding |
| SCA17/HDL4 | 607136 | TBP | Transcription factor |
| SCA2 | 183090 | ATXN2 | RNA binding |
| SCA3 | 109150 | ATXN3 | Deubiquitinating enzyme |
| SCA6 | 183086 | CACNA1A | Voltage-gated calcium channel |
| SCA7 | 164500 | ATXN7 | Chromatin binding |
| Repeat expansions in noncoding regions
| |||
| SCA10 | 603516 | ATXN10 | Unknown |
| SCA12 | 604326 | PPP2R2B | Protein phosphatase |
| SCA31 | 117210 | BEAN1 | Unknown |
| SCA36 | 614153 | NOP56 | Ribosomal RNA subunit biogenesis |
| SCA8 | 608768 | ATXN8OS | Noncoding gene |
| Missense, nonsense, insertion, or deletion mutations
| |||
| ADCA-DN | 604121 | DNMT1 | DNA methyltransferase |
| CANPMR | 614756 | CAMTA1 | Transcriptional activator |
| Cortical myoclonus | 614937 | NOL3 | RNA binding |
| Familiar dementia | 176500 | ITM2B | ATP; beta amyloid binding |
| Gillespie syndrome | 206700 | PAX6 | Transcription factor |
| SCA5 | 600224 | SPTBN2 | Cytoskeleton component |
| SCA11 | 604432 | TTBK2 | Protein kinase |
| SCA13 | 605259 | KCNC3 | Voltage-gated potassium channel |
| SCA14 | 605361 | PRKCG | Calcium-dependent protein kinase |
| SCA15/SCA16 | 606658 | ITPR1 | Ligand-gated calcium channel |
| SCA19/SCA22 | 607346 | KCND3 | Voltage-gated potassium channel |
| SCA23 | 610245 | PDYN | Neuropeptide hormone activity |
| SCA26 | 609306 | EEF2 | Translation factor |
| SCA27 | 609307 | FGF14 | Growth factor |
| SCA28 | 610246 | AFG3L2 | ATP-dependent protease |
| SCA35 | 613908 | TGM6 | Protein crosslinking; polyamine conjugation |
| ARCAs | |||
| AOA1 | 208920 | APTX | DNA repair |
| AOA2 | 606002 | SETX | DNA/RNA helicase |
| AOA3 | 615217 | PIK3R5 | PI3K regulation |
| Ataxia telangectasia | 208900 | ATM | DNA damage-dependent protein kinase |
| Ataxia telangectasia-like disorder | 604391 | MRE11A | DNA repair |
| Cayman | 601238 | ATCAY | Unknown |
| Charlevoix-Saguenay | 270550 | SACS | Cochaperone |
| Cockayne syndrome A | 216400 | ERCC8 | DNA repair; ubiquitin ligase complex component |
| Cockayne syndrome B | 133540 | ERCC6 | DNA repair |
| Coenzyme Q10 deficiency | 607426 | COQ2 | Coenzyme Q biosynthesis |
| Friedreich ataxia | 229300 | FXN | Iron homeostasis |
| Marinesco–Sjogren | 248800 | SIL1 | Protein translocation/folding |
| MGA5 | 610198 | DNAJC19 | Protein translocation; cochaperone |
| PHARC | 612674 | ABHD12 | Lipid hydrolysis |
| SCAN1 | 607250 | TDP1 | DNA repair |
| SCAR8 | 610743 | SYNE1 | Cytoskeleton |
| SCAR9 | 612016 | CABC1 | Kinase; coenzyme Q biosynthesis |
Abbreviations: ADCAs, autosomal dominant cerebellar ataxias; ARCAs, autosomal recessive cerebellar ataxias; CA, cerebellar ataxia; DRPLA, dentatorubral pallidoluysian atrophy; HD, Huntington disease; SCA, spinocerebellar ataxia.