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