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.
|
Psychotic sign/sympt.
Minimyoclonus Cognitive decline Parkinsonism Atypical parkinsonism Cerebral atrophy Dysarthria/anarthria Vertical gaze palsy Rigidity Gait difficulties/falls Hallucinations Bradykinesia Spasticity/pyramidal signs NMS parkinsonism Saccadic abnormalities Show more (+12) |
Gait difficulties/falls
|
|
No
|
♀
|
JA
|
n.a.
|
16
|
43
|
n.a.
|
Vertical gaze palsy
Bradykinesia Seizures Saccadic abnormalities Spasticity/pyramidal signs Gait difficulties/falls Parkinsonism Cerebral atrophy Dysarthria/anarthria Behavioral abnormalities Minimyoclonus Atypical parkinsonism NMS parkinsonism Rigidity Show more (+11) |
Seizures
|