Zhu, 2014: Overview of all reported PFBC-SLC20A2 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
A
|
CHN
|
11
|
11
|
Yes
|
Brain calcification
Trigger: Sudden movement Attacks - upper limbs Dystonia Attacks – bilateral Attacks - neck Attacks - lower limbs Attacks - face PKD -Motor Attacks - trunk Show more (+8) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
13
|
33
|
Yes
|
Dyskinesia
Attacks - upper limbs PKD Trigger: Sudden movement Brain calcification Attacks - trunk Attacks – bilateral Attacks - face Attacks - lower limbs Dystonia -Motor Attacks - neck Show more (+9) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
11
|
39
|
Yes
|
Attacks – bilateral
-Motor Attacks - lower limbs Attacks - face Attacks - neck Dystonia PKD Attacks - trunk Brain calcification Dyskinesia Trigger: Sudden movement Attacks - upper limbs Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
10
|
15
|
Yes
|
Attacks - neck
Brain calcification PKD Trigger: Sudden movement Attacks – bilateral Attacks - face Dystonia Attacks - trunk Attacks - lower limbs Dyskinesia Attacks - upper limbs -Motor Show more (+9) |
Attacks - lower limbs
|
|
No
|
♀
|
A
|
CHN
|
12
|
13
|
Yes
|
Attacks - upper limbs
Trigger: Sudden movement Dyskinesia Attacks - lower limbs Attacks - neck -Motor Attacks - face Dystonia Attacks – bilateral Attacks - trunk PKD Brain calcification Show more (+9) |
n.a.
|