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