Table 2. Clinical characteristics of patients with C9orf72 expansions.
| Characteristics | Case 1 | Case 2 | Case 3 | Case 4 |
|---|---|---|---|---|
| Clinical diagnosis | bvFTD | FTD/ALS | FTD-PSP | Probable AD |
| Disease duration (years) | 12 | 4 | 5 | 8 |
| Hereditary | Familial | Dominant | Sporadic | Dominant (mix onset) |
| Debut symptom | Behavior changes, anxiety | Apathy, bradykinesia | Disorganization falls, behavior changes | Memory impairment |
|
Neurological exam • Brisk reflexes |
+ |
+ |
+ |
+ |
| • Hoffman | - | + | - | + |
| • Babinski | - | + | - | - |
| • Frontal release signs | + | + | + | + |
| • Pseudobulbar signs | + | + | + | - |
| • Bulbar signs | - | + | - | - |
| • Rigidity | + | + | + | + |
| • Bradykinesia | + | + | + | + |
| • Postural instability | - | + | + | - |
| • Tremor | - | - | - | - |
| UPDRS–III | 18 | 27 | 44 | 14 |
| Dopa-responsive | + | - | - | - |
| GDS | 4 | 5 | 4 | 4 |
bBvFTD–behavioural variant of frontotemporal dementia; PSP–progressive supranuclear paralysis; ALS–amyotrophic lateral sclerosis; AD–Alzheimer’s disease; UPDRS–unified Parkinson's disease rating scale; GDS–Geriatric Depression Scale.