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