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