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