Keller, 2013: Overview of all reported PFBC-PDGFB patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
SRB
|
45
|
54
|
Yes
|
n.a.
|
||
No
|
♂
|
C
|
n.a.
|
13
|
56
|
Yes
|
Brain calcification
Tremor (any or unspecified) Headache Depression Migraine (any subclass) Cerebellar signs Ataxia NMS parkinsonism Postural tremor Parkinsonism -Motor Show more (+8) |
Migraine (any subclass)
|
|
Yes
|
♀
|
C
|
FRA
|
n.a.
|
26
|
Yes
|
Brain calcification
Cognitive decline -Motor Psychotic sign/sympt. Dyskinesia Parkinsonism NMS parkinsonism Dystonia Show more (+5) |
Psychotic sign/sympt.
|
|
No
|
♂
|
C
|
n.a.
|
12
|
21
|
Yes
|
Ataxia
Tremor, action Rigidity Chorea NMS parkinsonism Postural tremor Cerebellar signs -Motor Brain calcification Bradykinesia Parkinsonism Cognitive decline Tremor (any or unspecified) Show more (+10) |
n.a.
|
|
No
|
♀
|
C
|
n.a.
|
14
|
26
|
Yes
|
Cognitive decline
Postural tremor Chorea Cerebellar signs PKD Brain calcification NMS parkinsonism Parkinsonism -Motor Migraine (any subclass) Tremor (any or unspecified) Headache Show more (+9) |
Migraine (any subclass)
|