TABLE 4.
Demographic data—Huntington's disease, amyotrophic lateral sclerosis, Creutzfeldt–Jakob disease
| HD | ALS | CJD | |
|---|---|---|---|
| Description of the population | |||
| Sample size, n | 15 | 27 | 56 |
| Male, n/n tot (%) | 6/15 (40.0%) | 12/27 (44.4%) | 25/56 (44.6%) |
| Age at symptom onset (years), mean ± SD |
35.9 ± 9.2 n tot = 12 |
60.0 ± 10.2 n tot = 24 |
69.1 ± 9.7 n tot = 53 |
| Duration of disease (years), mean ± SD |
16.1 ± 3.9 n tot = 12 |
5.4 ± 3.8 n tot = 24 |
0.6 ± 1.5 n tot = 53 |
| Age at death (years), mean ± SD |
51.7 ± 9.8 n tot = 15 |
65.7 ± 9.9 n tot = 27 |
69.6 ± 9.8 n tot = 56 |
| Clinical data | |||
| Memory disorders, n/n tot (%) | 2/13 (15.4%) | 2/23 (8.7%) | 31/54 (57.4%) |
| Phasic disorders, n/n tot (%) | 5/13 (38.5%) | 1/23 (4.3%) | 35/54 (64.8%) |
| Praxis disorders, n/n tot (%) | 6/13 (46.1%) | 1/23 (4.3%) | 34/54 (63.0%) |
| Executive disorders, n/n tot (%) | 6/13 (46.1%) | 1/23 (4.3%) | 28/54 (51.8%) |
| Anxio‐depressive disorders, n/n tot (%) | 3/13 (23.1%) | 5/23 (21.7%) | 5/54 (9.3%) |
| Behavioral disorders, n/n tot (%) | 6/13 (46.1%) | 1/23 (4.3%) | 18/54 (33.3%) |
| Hallucinations/delirium, n/n tot (%) | 1/13 (7.7%) | 1/23 (4.3%) | 11/54 (20.4%) |
| Extrapyramidal syndrome, n/n tot (%) | 4/13 (30.8%) | – | 11/54 (20.4%) |
| Movement disorders, n/n tot (%) | 13/13 (100.0%) | – | 38/54 (70.4%) |
| Peripheral motor symptoms, n/n tot (%) | – | 21/23 (91.3%) | 0/54 (0%) |
| Central motor symptoms, n/n tot (%) | – | 22/23 (95.6%) | 9/54 (16.7%) |
| Bulbar symptoms, n/n tot (%) | – | 23/23 (100.0%) | 7/54 (13.0%) |
| Visual disturbances, n/n tot (%) | – | – | 18/54 (33.3%) |
| Paraclinical data | |||
| Triplet repeat, mean ± SD |
47.4 ± 4.0 n tot = 10 |
– | – |
| Standard biological abnormalities, n/n tot (%) | – | 2/12 (16.7%) | 15/46 (32.6%) |
| Standard CSF abnormalities, n/n tot (%) | – | – | 12/36 (33.3%) |
| 14‐3‐3 protein, n/n tot (%) | – | – | 34/45 (75.5%) |
| Biomarker CSF, n/n tot (%) | |||
| A+T+ | – | – | 2/9 (22.2%) |
| A−T+ | – | – | 7/9 (77.8%) |
| A+T− | – | – | – |
| A−T− | – | – | – |
| ENMG abnormalities, n/n tot (%) | – | 16/17 (94.1%) | – |
| EEG abnormalities, n/n tot (%) | – | – | 41/50 (82.0%) |
| CT‐scan/MRI abnormalities, n/n tot n tot (%) | – | 3/10 (30.0%) | 53/55 (96.4%) |
| Neuropsychological tests abnormalities, n/n tot (%) | – | – | 25/25 (100.0%) |
| Neuropathological data | |||
| Immediate macroscopic analysis | |||
| Brain weight (kg), mean ± SD |
1.09 ± 0.15 n tot = 13 |
1.29 ± 0.15 n tot = 26 |
1.24 ± 0.18 n tot = 56 |
Note: For each subgroup, the total number of headcount (n tot) is specified in case of missing data. Cerebrospinal fluid biomarkers profiles: biomarkers of Aβ plaques (labeled “A”) are low CSF Aβ42 or Aβ42/Aβ40 ratio; biomarkers of fibrillar Tau (labeled “T”) are elevated CSF phosphorylated Tau (p‐Tau). Binarizing each of the two biomarker groups into normal/abnormal (−/+) results in four possible biomarker profiles: A+T+, A−T+, A+T−, A−T− [20].
Abbreviations: ALS, amyotrophic lateral sclerosis; CJD, Creutzfeldt–Jakob disease; CSF, cerebro spinal fluid; CT, computed tomography; EEG, electroencephalogram; ENMG, electroneuromyogram; HD, Huntington's disease; IHC, immunohistochemistry; MRI, magnetic resonance imaging.