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