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