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