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