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