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