Table 2.
Initial diagnosis categories of patients.
| Initial diagnosis categorya | Patients, n (%) (N = 291) |
Age of onset, years Mean (min, max) |
|---|---|---|
| ALSP | 72 (24.7) | 44.1 (18.0, 86.0) |
| Frontotemporal dementia | 28 (9.6) | 50.2 (33.0, 71.0)d |
| Multiple sclerosis | 21 (7.2) | 33.5 (20.0, 47.0) |
| Cerebrovascular disease | 9 (3.1) | 38.2 (21.0, 57.0) |
| Familial leukoencephalopathy | 8 (2.7) | 48.6 (40.0, 60.0) |
| Alzheimer’s disease | 7 (2.4) | 54.0 (40.0, 78.0) |
| Adult-onset leukodystrophy | 5 (1.7) | 36.8 (25.0, 45.0) |
| Nonspecific neurodegeneration or dementiab | 43 (14.8) | 42.2 (18.0, 63.0) |
| Otherc | 21 (7.2) | 45.7 (22.0, 67.0)d |
| Missing | 77 (26.5) | 41.6 (22.9, 70.0)e |
ALSP, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CNS, central nervous system.
Diagnosis category reflects verbatim terminology from case reports (Supplementary Table 1).
Includes nonspecific (“leukodystrophy,” “leukoencephalopathy,” “dementia”) or multiple initial diagnoses.
Includes corticobasal syndrome (n = 7), CADASIL (n = 5), parkinsonism (n = 2), and Binswanger disease, cervical spondylotic myelopathy, CNS lesions related to celiac disease, lumbosacral spondylolisthesis, neuropsychiatric systemic lupus erythematosus, pulmonary tuberculosis, and spasticity (each n = 1).
Age missing for 1 patient.
Age missing for 10 patients.