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.
|
Panic attacks
Dystonia Tremor (any or unspecified) Cognitive decline Psychotic sign/sympt. Vertical gaze palsy Hallucinations NMS parkinsonism Hyperreflexia Minimyoclonus Bradykinesia Jerky pursuit Spasticity/pyramidal signs Parkinsonism Rigidity Atypical parkinsonism Ataxia/Dysdiadochokinesia Show more (+14) |
Dystonia
Tremor (any or unspecified) Bradykinesia |
|
Yes
|
♀
|
AM
|
GRL
|
15
|
23
|
n.a.
|
Parkinsonism
Minimyoclonus Bradykinesia Cognitive decline Tremor (any or unspecified) Atypical parkinsonism Show more (+3) |
Cognitive decline
|
|
No
|
♀
|
AM
|
GRL
|
29
|
32
|
n.a.
|
Minimyoclonus
Atypical parkinsonism Cognitive decline Saccadic abnormalities Gait difficulties/falls Vertical gaze palsy Ataxia/Dysdiadochokinesia Hyperreflexia Parkinsonism Spasticity/pyramidal signs Show more (+7) |
Gait difficulties/falls
|
|
No
|
♂
|
AM
|
GRL
|
24
|
45
|
n.a.
|
n.a.
|