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