Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
BRA
|
n.a.
|
46
|
Yes
|
Brain calcification
-Motor |
n.a.
|
|
No
|
♂
|
C
|
FRA
|
63
|
63
|
Yes
|
Psychotic sign/sympt.
|
||
No
|
♀
|
C
|
n.a.
|
n.a.
|
38
|
Yes
|
-Motor
Headache |
n.a.
|
|
No
|
♂
|
C
|
SRB
|
n.a.
|
n.a.
|
Yes
|
Dyskinesia
|
||
No
|
♂
|
C
|
SRB
|
44
|
47
|
Yes
|
Dyskinesia
|
||
No
|
♀
|
C
|
SRB
|
42
|
43
|
Yes
|
-Motor
Cerebellar signs Chorea Dyskinesia NMS parkinsonism Depression Brain calcification Cognitive decline Anxiety Show more (+6) |
Anxiety
|
|
Yes
|
♀
|
C
|
n.a.
|
16
|
30
|
Yes
|
Migraine (any subclass)
Parkinsonism Speech disturbance Brain calcification Tremor (any or unspecified) Depression Chorea PKD Cognitive decline -Motor Headache Show more (+8) |
Migraine (any subclass)
|
|
No
|
♀
|
C
|
n.a.
|
n.a.
|
15
|
Yes
|
Cognitive decline
Migraine (any subclass) Dystonia -Motor Headache Brain calcification Show more (+3) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
n.a.
|
34
|
Yes
|
n.a.
|
||
Yes
|
♂
|
C
|
SRB
|
36
|
41
|
Yes
|
Depression
Cognitive decline Dyskinesia Brain calcification Parkinsonism Psychotic sign/sympt. Ataxia -Motor NMS parkinsonism Show more (+6) |
Ataxia
|