Hempelmann, 2006: Overview of all reported PxMD-PNKD patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
B
OMN
n.a.
n.a.
n.a.
Attacks - trunk
Aura preceding attacks
Trigger: Sleep deprivation
Chorea
Attacks - face
Attacks at rest
Speech disturbance
Athetosis
Attacks - neck
Attacks – bilateral
Dystonia
Trigger: Stress
Show more (+9)
n.a.
p.Ala7Val: het
Yes
n.a.
B
OMN
n.a.
n.a.
n.a.
Athetosis
Attacks - face
Attacks - neck
Aura preceding attacks
Attacks - trunk
Attacks – bilateral
Dystonia
Chorea
Trigger: Stress
Speech disturbance
Trigger: Sleep deprivation
Attacks at rest
Show more (+9)
n.a.
p.Ala7Val: het
No
n.a.
B
OMN
n.a.
n.a.
n.a.
Dystonia
Attacks – bilateral
Attacks at rest
Aura preceding attacks
Speech disturbance
Trigger: Sleep deprivation
Attacks - trunk
Chorea
Athetosis
Trigger: Stress
Attacks - face
Attacks - neck
Show more (+9)
n.a.
p.Ala7Val: het
No
n.a.
B
OMN
n.a.
n.a.
n.a.
Chorea
Speech disturbance
Attacks - face
Aura preceding attacks
Dystonia
Attacks – bilateral
Trigger: Stress
Trigger: Sleep deprivation
Athetosis
Attacks at rest
Attacks - neck
Attacks - trunk
Show more (+9)
n.a.
p.Ala7Val: het
No
B
OMN
n.a.
n.a.
n.a.
Attacks - neck
Attacks - trunk
Chorea
Athetosis
Trigger: Stress
Trigger: Sleep deprivation
Attacks at rest
Aura preceding attacks
Dystonia
Speech disturbance
Attacks - face
Attacks – bilateral
Show more (+9)
n.a.
p.Ala7Val: het
No
n.a.
B
OMN
n.a.
n.a.
n.a.
Trigger: Stress
Trigger: Sleep deprivation
Dystonia
Attacks at rest
Aura preceding attacks
Attacks - trunk
Athetosis
Speech disturbance
Attacks - face
Chorea
Attacks – bilateral
Attacks - neck
Show more (+9)
n.a.
p.Ala7Val: het