Table 1 Summary of clinical findings
Case | Case one (G51D) | Case two (G51D) | Case three (G51D) | H50Q | Duplication |
|---|---|---|---|---|---|
Age of onset (years) | 19 | 69 | 46 | 71 | 38 |
Disease duration (years) | 29 | 6 | 6 | 12 | 12 |
Presenting symptoms | Resting hand tremor, anxiety | Resting hand tremor, anxiety and depression | Resting hand tremor, depression | Resting hand tremor | Resting hand tremor and tongue tremor |
Final clinical diagnosis | Familial pallidopyramidal syndrome | Parkinson’s disease with dementia | Parkinson’s disease with dementia | Parkinson’s disease | FTDP-17 |
Levodopa responsive | Good and sustained | Transient | Transient | Good and sustained | Transient |
Motor fluctuation | Yes | No | No | No | No |
Dystonia | Wearing-off foot dystonia | Blepharospasm (unrelated to dopamine replacement therapy) | No | Blepharospasm (unrelated to dopamine replacement therapy) | Blepharospasm and cervical dystonia (unrelated to dopamine replacement therapy) |
Latency from first symptom of onset of cognitive impairment (years) | 8 | 2 | 2 | Not applicable | 9 |
Prominent cognitive impairment | Yes | Yes | Yes | No | Yes |
Predominant frontal cognitive impairment | No | Yes (emotional lability, apathy, disinhibition) | Yes (perseveration, frontal executive impairment, grasp reflex) | No | Yes (obsessive behaviour, self-neglect, markedly increased appetite, grasp reflex, perseveration, motor recklessness) |
Visual hallucinations (unrelated to drug effect) | Yes | Yes | Yes | No | Yes |
Autonomic dysfunction | Yes | Yes | Yes | No | Yes |
Pyramidal signs (pathological reflexes and extensor plantar response) | Yes | Yes | Yes | No | Yes |
Additional features | Myoclonus seizures | Vertical supranuclear gaze palsy, apraxia of eyelid opening | Not applicable | No | Not applicable |
Family history of parkinsonism | Father, sister | Mother, Aunt, brother, Son | Mother, uncle, grandmother, great aunt | No | Father, male cousin, grandmother, two great aunts |