Table 3.
Top biological pathways in Early Onset Ataxia and Dystonia (EOAD+) and (EOAD−).
| Subgroup | Most Significant Pathways | p-Value |
|---|---|---|
| EOA, Dystonia + (EOAD+) | 1. organelle organization | 8.853 × 10−17 |
| 2. cellular component organization or biogenesis | 2.315 × 10−12 | |
| 3. cellular component organization | 1.767 × 10−11 | |
| 4. chromosome organization | 7.158 × 10−8 | |
| 5. cytoskeleton organization | 3.441 × 10−7 | |
| EOA, Dystonia − (EOAD−) | 1. small molecule metabolic process | 1.091 × 10−17 |
| 2. cellular lipid metabolic process | 2.773 × 10−15 | |
| 3. lipid metabolic process | 2.866 × 10−15 | |
| 4. cellular lipid catabolic process | 6.840 × 10−15 | |
| 5. carboxylic acid metabolic process | 1.376 × 10−14 | |
| EOA, White Matter damage + (EOAW+) | 1. organelle organization | 4.102 × 10−8 |
| 2. cellular component organization | 6.759 × 10−8 | |
| 3. cellular component organization or biogenesis | 8.330 × 10−8 | |
| 4. regulation of organelle organization | 4.108 × 10−7 | |
| 5. regulation of cellular component organization | 6.354 × 10−6 | |
| EOA, White matter damage − (EOAW−) | 1. ribonucleoprotein complex biogenesis | 1.897 × 10−6 |
| 2. cellular nitrogen compound metabolic process | 3.662 × 10−6 | |
| 3. ribosome biogenesis | 8.758 × 10−6 | |
| 4. cellular component organization or biogenesis | 9.220 × 10−5 * | |
| 5. RNA processing | 1.389 × 10−4 * | |
| EOA, extracerebellar damage + (EOAX+) | 1. carboxylic acid metabolic process | 5.703 × 10−10 |
| 2. oxoacid metabolic process | 9.228 × 10−9 | |
| 3. organic acid metabolic process | 1.635 × 10−8 | |
| 4. cellular lipid catabolic process | 1.742 × 10−6 | |
| 5. vacuolar transport | 3.896 × 10−6 | |
| EOA, extracerebellar damage − (EOAX−) | 1. RNA metabolic process | 4.933 × 10−16 |
| 2. mRNA metabolic process | 1.716 × 10−14 | |
| 3. nucleic acid metabolic process | 2.453 × 10−13 | |
| 4. gene expression | 9.775 × 10−13 | |
| 5. mRNA processing | 5.158 × 10−12 | |
| EOA, cerebellar damage + (EOAC+) | 1. cellular component organization | 9.435 × 10−11 |
| 2. cellular component organization or biogenesis | 1.286 × 10−10 | |
| 3. organelle organization | 9.573 × 10−10 | |
| 4. cellular localization | 3.517 × 10−7 | |
| 5. vacuolar transport | 3.177 × 10−6 | |
| EOA, cerebellar damage − (EOAC−) | 1. No statistical significant pathways could be found. | |
| EOA, dystonia+, White matter damage + (EOAD+W+) | 1. organelle organization | 9.603 × 10−15 |
| 2. cellular component organization or biogenesis | 3.714 × 10−13 | |
| 3. cellular component organization | 1.062 × 10−12 | |
| 4. cellular localization | 2.485 × 10−8 | |
| 5. microtubule-based process | 1.631 × 10−7 |
+ = comorbid sign is present; − = comorbid sign is absent; EOAD = EOA and comorbid dystonia; EOAW = EOA and white matter damage; EOAX = EOA and extra-cerebellar damage; EOAC = EOA and cerebellar damage; EOADW = EOA, dystonia and white matter damage. * Not significant. Statistical significance for pathway analysis: p < 5 × 10−5.