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

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
SRB
0
15
n.a.
Athetosis
Attacks - face
Dystonia
Attacks – bilateral
Trigger: Stress
Attacks at rest
Chorea
Attacks - neck
Trigger: Prolonged fasting
Show more (+6)
n.a.
p.Ala9Val: het
No
C
SRB
0
30
n.a.
Attacks – bilateral
Trigger: Caffeine
Trigger: Prolonged fasting
Dystonia
Aura preceding attacks
Trigger: Sleep deprivation
Attacks - face
Attacks - trunk
Trigger: Stress
Athetosis
Chorea
Attacks at rest
Show more (+9)
n.a.
p.Ala9Val: het
No
C
SRB
0
28
n.a.
Aura preceding attacks
Trigger: Stress
Dystonia
Attacks at rest
Trigger: Prolonged fasting
Attacks – bilateral
Attacks - neck
Trigger: Caffeine
Trigger: Sleep deprivation
Show more (+6)
n.a.
p.Ala9Val: het
No
C
SRB
1
22
n.a.
Attacks - face
Attacks – bilateral
Athetosis
Attacks at rest
Trigger: Caffeine
Aura preceding attacks
Trigger: Sleep deprivation
Trigger: Stress
Attacks - neck
Chorea
Show more (+7)
n.a.
p.Ala9Val: het
No
C
SRB
1
50
n.a.
Attacks - face
Aura preceding attacks
Dystonia
Speech disturbance
Trigger: Caffeine
Attacks at rest
Athetosis
Attacks – bilateral
Chorea
Trigger: Stress
Show more (+7)
n.a.
p.Ala9Val: het