Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
AM
|
GRL
|
10
|
23
|
n.a.
|
Cognitive decline
|
||
No
|
♂
|
AM
|
GRL
|
12
|
30
|
n.a.
|
Parkinsonism
Spasticity/pyramidal signs NMS parkinsonism Minimyoclonus Cognitive decline Tremor (any or unspecified) Dystonia Bradykinesia Hallucinations Jerky pursuit Psychotic sign/sympt. Panic attacks Vertical gaze palsy Atypical parkinsonism Rigidity Ataxia/Dysdiadochokinesia Hyperreflexia Show more (+14) |
Tremor (any or unspecified)
Dystonia Bradykinesia |
|
Yes
|
♀
|
AM
|
GRL
|
15
|
23
|
n.a.
|
Parkinsonism
Atypical parkinsonism Tremor (any or unspecified) Cognitive decline Minimyoclonus Bradykinesia Show more (+3) |
Cognitive decline
|
|
No
|
♀
|
AM
|
GRL
|
29
|
32
|
n.a.
|
Minimyoclonus
Cognitive decline Spasticity/pyramidal signs Vertical gaze palsy Parkinsonism Atypical parkinsonism Saccadic abnormalities Ataxia/Dysdiadochokinesia Gait difficulties/falls Hyperreflexia Show more (+7) |
Gait difficulties/falls
|
|
No
|
♂
|
AM
|
GRL
|
24
|
45
|
n.a.
|
n.a.
|