Eiberg, 2012: Overview of all reported MxMD-ATP13A2 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
AM
|
GRL
|
10
|
23
|
n.a.
|
Cognitive decline
|
||
No
|
♂
|
AM
|
GRL
|
12
|
30
|
n.a.
|
Dystonia
NMS parkinsonism Spasticity/pyramidal signs Bradykinesia Minimyoclonus Vertical gaze palsy Tremor (any or unspecified) Parkinsonism Jerky pursuit Hyperreflexia Psychotic sign/sympt. Atypical parkinsonism Panic attacks Cognitive decline Rigidity Hallucinations Ataxia/Dysdiadochokinesia Show more (+14) |
Dystonia
Bradykinesia Tremor (any or unspecified) |
|
Yes
|
♀
|
AM
|
GRL
|
15
|
23
|
n.a.
|
Atypical parkinsonism
Bradykinesia Minimyoclonus Parkinsonism Cognitive decline Tremor (any or unspecified) Show more (+3) |
Cognitive decline
|
|
No
|
♀
|
AM
|
GRL
|
29
|
32
|
n.a.
|
Gait difficulties/falls
Ataxia/Dysdiadochokinesia Saccadic abnormalities Vertical gaze palsy Parkinsonism Spasticity/pyramidal signs Atypical parkinsonism Hyperreflexia Cognitive decline Minimyoclonus Show more (+7) |
Gait difficulties/falls
|
|
No
|
♂
|
AM
|
GRL
|
24
|
45
|
n.a.
|
n.a.
|