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