Inzelberg, 2018: Overview of all reported MxMD-ATP13A2 patients
| 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
Parkinsonism Spasticity/pyramidal signs Atypical parkinsonism NMS parkinsonism Hallucinations Rigidity Gait difficulties/falls Cerebral atrophy Dysarthria/anarthria Bradykinesia Saccadic abnormalities Cognitive decline Minimyoclonus Psychotic sign/sympt. Show more (+12) |
Gait difficulties/falls
|
|
No
|
♀
|
JA
|
n.a.
|
16
|
43
|
n.a.
|
Vertical gaze palsy
Atypical parkinsonism Parkinsonism Bradykinesia Spasticity/pyramidal signs Behavioral abnormalities Dysarthria/anarthria NMS parkinsonism Minimyoclonus Gait difficulties/falls Saccadic abnormalities Seizures Cerebral atrophy Rigidity Show more (+11) |
Seizures
|