Table 1 Summary of clinical presentations
Case 1 | Case 2 | Case 3 | |
|---|---|---|---|
Age of onset | 72 | 49 | 64 |
Duration (months) | 18 | 25 | 29 |
Clinical appearance (syndrome) | MND/PSP/FTLD | FTLD | FTLD/PSP |
Central motoneuron dysfunction | Hyperreflexia | Generalized spasticity | Right-sided spasticity |
Periferal motoneuron dysfunction | Yes, EMG proven | Interosseal amyotrophy | No |
Dysarthria/dysphagia | Yes, prominent | Yes, later | Yes-early/prominent |
Early falls | Yes | Yes | Yes |
Eyelid opening apraxia | Early | Late | Present |
Oculomotoricity, conjugate ocular pursuit movements | Abnormal/Voluntar movements reduced both horisontally and vertically | Initially normal, reduced mainly vertically, but after one year | Reduced mainly vertically |
Saccades | Slow, hypometric | Slow, hypometric | Slow, hypometric |
Bradykinesia | Axial predominance | Axial and limbs | Axial predominance |
Rigidity | Axial predominance | Axial and limbs | Axial predominance |
Tremor | No | No | No |
Dystonia | No | Facial movements, neck anteflexion and lateroflexion | Late - retrocollis |
Response to L-dopa | Poor | Poor | Non |
Executive dysfunction | Prominent | Prominent | Prominent |
Insight | Lacking | Present at the beginning | Lacking |
Frontal release signs | Grasping/spastic laughter/disinhibited behavior | Behavioral changes, dysexecutive syndrome | Behavioral changes |
Memory problems | Minimal | Minimal, effect of cueing | Impaired |
Visuospatial dysfunction | Impaired | Impaired | Impaired |
Gait apraxia | Early feature | Present early | Early |
Autonomic function | N/A | Not present | Not present |
Case 1 | Case 2 | Case 3 | |
MRI | Frontotemporal atrophy with left predominance | Generalized atrophy with mild predominance periventriculary and frontal | Frontotemporal and brainstem atrophy |
Cerebrospinal fluid | Normal | Not done | Normal |
EMG | Probable ALS according to El Escorial criteria, normal conduction | Not done | Normal conduction, no denervation |
Pathological diagnosis | FTLD-TDP/MND | FTLD-TDP/MND | FTLD-TDP/MND |