Table 1 Sensitivity and specificity for the diseases in the validation cohort. Sensitivity ranged from 100% for NPC, AOA1 and 2, TS, Wernicke’s encephalopathy, inflammatory encephalitis, infarction/hemorrhage to 60% for AT. Specificity was between 95% for Parkinsonian syndromes and Huntington’s chorea and 66% for inflammatory encephalitis. Additionally the 95% confidence interval was calculated for every value
Niemann-Pick disease Type C (NP-C) | Inflammatory Encephalitis | Tumor | Infarction/ hemorrhage | Multiple sclerosis | Parkinsonian syndromes | Progressive supranuclear palsy (PSP) | |
Sensitivity: | 10/10 | 5/5 | 3/4 | 11/11 | 8/10 | 8/10 | 8/10 |
100% | 100% | 75.0% | 100% | 80.0% | 80.0% | 80.0% | |
95% CI | 1.000–1.000 | 1.000–1.000 | 0.326–1.000 | 1.000–1.000 | 0.552–1.000 | 0.552–1.000 | 0.552–1.000 |
Specificity: | 71/94 | 65/99 | 82/100 | 82/93 | 63/94 | 89/94 | 83/94 |
75.5% | 65.7% | 82.0% | 88.2% | 67.0% | 94.7% | 88.3% | |
95% CI | 0.668–0.842 | 0.563–0.750 | 0.745–0.895 | 0.816–0.947 | 0.575–0.765 | 0.901–0.992 | 0.818–0.948 |
Wernicke’s encephalo-pathy | Ataxia teleangiectasia | Ataxia with oculomotor apraxia 1/2 | Gaucher’s disease Type 3 (GD3) | Huntington’s chorea (HTT) | Cerebellar syndromes | Tay-Sachs disease | |
Sensitivity: | 5/5 | 3/5 | 4/4 | 8/10 | 4/5 | 10/10 | 5/5 |
100% | 60.0% | 100% | 80.0% | 80.0% | 100% | 100% | |
95% CI | 1.000–1.000 | 0.171–1.000 | 1.000–1.000 | 0.552–1.000 | 0.449–1.000 | 1.000–1.000 | 1.000–1.000 |
Specificity: | 89/99 | 86/99 | 78/100 | 86/94 | 94/99 | 79/94 | 78/99 |
89.9% | 86.9% | 78.0% | 91.5% | 94.5% | 84.0% | 78.8% | |
95% CI | 0.840–0.958 | 0.802–0.935 | 0.699–0.861 | 0.858–0.971 | 0.906–0.993 | 0.766–0.914 | 0.707–0.868 |