Table 1 Summary of the demographic, clinical and neuroimaging information of the study subjects
From: Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
Patient ref no. | Family 66 | Family 97 | ||
|---|---|---|---|---|
66-E | 66-K | 66-L | 97-E | |
Gender/AAE (y) | Female/35 | Male/28 | Male/31 | Female/30 |
AAO (y) | 26 | 22 | 23 | 25 |
Initial symptoms | Depression/bradykinesia | Depression/tremor | Bradykinesia | Neuropsychiatric symptoms |
Bradykinesia | +++ | ++ | +++ | ++ |
Tremors | Yes | Yes | No | No |
Postural instability | +++ | ++ | +++ | +++ |
Dystonia | No | No | No | No |
Loss of ambulation | 3 y after onset | ambulatory | 3 y after onset | 2 y after onset |
Pyramidal signs | ++ | + | ++ | + |
Cerebellar signs | No | No | No | No |
Levodopa response | Yes -minimal | Yes -minimal | Yes -minimal | Yes -moderate |
Levodopa-induced dyskinesia | ++ | – | ++ | – |
Frontotemporal atrophy on MRI | ++ | + | ++ | ++ |
Iron accumulation | No | No | No | No |
PET scan | Frontotemporal lobe | Frontotemporal lobe | Not done | Frontotemporal lobe |
Hoehn & Yahr stage | 4.5 | 4 | 5 | 4 |
Neuropsychiatric symptoms | ++ | ++ | + | +++ |
Emotional Liability | +++ | + | + | +++ |
Cognitive decline | + | ++ | + | + |
Semantic disorder | + | + | + | – |
Autonomic symptoms | Yes | Yes | Yes | No |
 Bladder disturbances | Urgency | Urge incontinence | Urgency | – |
 Sweating | Yes | Yes | No | – |
 Flushing | No | Yes | No | – |
Sleep disorders | Yes | Yes | Yes | Yes |
 REM-sleep behavior disorder | Yes | No | No | – |
 Vivid dreaming | No | Yes | No | Yes |
 Sleep fragmentation | Yes | Yes | Yes | – |
Death | Alive | Alive | Died after 8 y | Alive |