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