Table 1.
Gaps in ALSP specific published literature of clinical manifestations.
| Clinical manifestations of ALSP | ALSP-specific literature references | Total ALSP-specific literature references |
|---|---|---|
| Genetics | (6, 9, 13, 14, 17–42) | (30) |
| Neuropathology | (6, 14, 17, 28, 29, 32, 43–48) | (12) |
| Imaging | (1, 6, 13, 22, 47, 49–59) | (16) |
| Prevalence | (5, 6, 9, 13, 14, 58, 60, 61) | (8) |
| Clinical course | (6, 13, 14, 53, 62, 63) | (6) |
| Diagnosis and clinical evaluation | (13, 14, 30, 31, 53, 64–67) | (9) |
| Current treatment for management of symptoms | (6, 14, 27, 44, 48, 68–72) | (10) |
| Potential neuropathophysiologic biomarkers | (28, 33, 62, 67) | (4) |
| Current and proposed interventional clinical studies of therapeutics | (27, 29, 48, 58, 70, 71, 91, 94) | (8) |
| Cognitive decline endpoint | (6, 14, 63) | (3) |
| Motor and sensory dysfunction endpoints | (14) | (1) |
| Impaired activities of daily living and physical and behavioral dysfunction endpoints | None | None |
| Magnetic resonance imaging and other biomarker surrogate endpoints | (14, 20, 24, 49, 50, 52, 53, 67) | (8) |
| Digital biomarker endpoints | None | None |
| Patient and caregiver perspective of burden due to unmet medical need | None | None |