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