Table 1.
Case report forms in the ARCA Registry.
| Case report form | Items/description | Dataset |
|---|---|---|
| Demographics | Sex, year of birth, dexterity, ethnic background, consanguinity, siblings | Core |
| Diagnosis | Genetic diagnosis, type of sequencing so far, mutation/repeats (optional) | Core |
| Biomarkers | Biosampling for research, biochemical markers (e.g., AFP and Vit E), neurophysiology (e.g., NCS and MEP) | Core |
| Clinical features | Onset, course (progressive, episodic), multisystemic involvement (e.g., eyes, epilepsy, diabetes, heart, and kidney), cognition, behavior, and mainstream school | Core |
| Comorbidity | Alcohol, CNS/PNS unrelated to ARCA, psychiatric, and review of systems; with possible contribution to impairment | Core |
| SARA | Scale for the Assessment and Rating of Ataxia | Core |
| INAS | Inventory of Non-Ataxia Signs | Core |
| FARS Stage | functional staging, mobility milestones (e.g., cane, walker, and wheelchair) | Core (since 2020) |
| PGI-C | Patient's Global Impression of Change since last visit | Core (since 2021) |
| EQ-5D/EQ-5D-Y | Self-rated assessment of health status | Extended |
| PHQ-9 | Patient health questionnaire on depression and anxiety | Extended |
| MRI | Summary of imaging features (e.g., atrophy and signal abnormalities) | Extended |
| Medication | Disease-specific; generic name, dose, target symptom, and outcome (optional) | Extended |
| FARS ADL | Activities of daily living | Extended (since 2021) |
| Pediatric features | Pregnancy, gestation, weight, head circumference, and development/walking | Optional |
| ARSACS DSI | Disease severity index for ARSACS | Optional |
AFP, alpha-fetoprotein; MEP, motor-evoked potential; NCS, nerve conduction studies; CNS, central nervous system; PNS, peripheral nervous system.