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