Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
JA
|
n.a.
|
27
|
45
|
n.a.
|
Spasticity/pyramidal signs
Bradykinesia Gait difficulties/falls Saccadic abnormalities Psychotic sign/sympt. Cognitive decline Parkinsonism Minimyoclonus Cerebral atrophy Atypical parkinsonism NMS parkinsonism Vertical gaze palsy Hallucinations Dysarthria/anarthria Rigidity Show more (+12) |
Gait difficulties/falls
|
|
No
|
♀
|
JA
|
n.a.
|
16
|
43
|
n.a.
|
Rigidity
NMS parkinsonism Parkinsonism Minimyoclonus Vertical gaze palsy Saccadic abnormalities Spasticity/pyramidal signs Atypical parkinsonism Cerebral atrophy Gait difficulties/falls Bradykinesia Behavioral abnormalities Seizures Dysarthria/anarthria Show more (+11) |
Seizures
|