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 Depression Dyskinesia Cognitive decline Chorea NMS parkinsonism Brain calcification Anxiety Show more (+6) |
Anxiety
|
|
Yes
|
♀
|
C
|
n.a.
|
16
|
30
|
Yes
|
Migraine (any subclass)
Tremor (any or unspecified) Parkinsonism PKD Cognitive decline Chorea Speech disturbance -Motor Brain calcification Depression Headache Show more (+8) |
Migraine (any subclass)
|
|
No
|
♀
|
C
|
n.a.
|
n.a.
|
15
|
Yes
|
Headache
Brain calcification Migraine (any subclass) Cognitive decline Dystonia -Motor Show more (+3) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
n.a.
|
34
|
Yes
|
n.a.
|
||
Yes
|
♂
|
C
|
SRB
|
36
|
41
|
Yes
|
Ataxia
Depression NMS parkinsonism Parkinsonism Cognitive decline -Motor Brain calcification Psychotic sign/sympt. Dyskinesia Show more (+6) |
Ataxia
|
|
No
|
♀
|
C
|
SRB
|
45
|
54
|
Yes
|
n.a.
|
||
No
|
♂
|
C
|
n.a.
|
13
|
56
|
Yes
|
Brain calcification
NMS parkinsonism Cerebellar signs Ataxia Headache -Motor Parkinsonism Migraine (any subclass) Postural tremor Tremor (any or unspecified) Depression Show more (+8) |
Migraine (any subclass)
|
|
Yes
|
♀
|
C
|
FRA
|
n.a.
|
26
|
Yes
|
Parkinsonism
Brain calcification Cognitive decline Dyskinesia Psychotic sign/sympt. -Motor NMS parkinsonism Dystonia Show more (+5) |
Psychotic sign/sympt.
|
|
No
|
♂
|
C
|
n.a.
|
12
|
21
|
Yes
|
Cerebellar signs
Parkinsonism NMS parkinsonism Tremor (any or unspecified) Rigidity Ataxia Tremor, action Bradykinesia -Motor Brain calcification Postural tremor Cognitive decline Chorea Show more (+10) |
n.a.
|
|
No
|
♀
|
C
|
n.a.
|
14
|
26
|
Yes
|
NMS parkinsonism
Parkinsonism Brain calcification Postural tremor Cognitive decline Headache Cerebellar signs Chorea PKD Tremor (any or unspecified) Migraine (any subclass) -Motor Show more (+9) |
Migraine (any subclass)
|