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