Arkadir, 2019: Overview of all reported PFBC-MYORG patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
46
46
Yes
Speech disturbance
-Motor symptoms
Brain calcification
Cognitive decline
Show more (+1)
Speech disturbance
No
n.a.
n.a.
31
45
Yes
Ataxia
Cerebellar signs
-Motor symptoms
Parkinsonism
Brain calcification
Cognitive decline
Show more (+3)
n.a.
No
n.a.
n.a.
23
39
Yes
Speech disturbance
-Motor symptoms
Brain calcification
Speech disturbance
No
n.a.
n.a.
28
44
Yes
Brain calcification
Cognitive decline
-Motor symptoms
Speech disturbance
Show more (+1)
Speech disturbance
Yes
n.a.
n.a.
38
47
Yes
Ataxia
Speech disturbance
Parkinsonism
Brain calcification
Cerebellar signs
-Motor symptoms
Show more (+3)
Speech disturbance
Yes
n.a.
n.a.
57
69
Yes
-Motor symptoms
Cerebellar signs
Ataxia
Brain calcification
Cognitive decline
Show more (+2)
n.a.
No
n.a.
n.a.
28
31
Yes
-Motor symptoms
Brain calcification
Tremor (any or unspecified)
Parkinsonism
Show more (+1)
Tremor (any or unspecified)
No
n.a.
n.a.
21
29
Yes
-Motor symptoms
Speech disturbance
Brain calcification
Speech disturbance