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.
Chorea
Athetosis
Attacks - neck
Attacks – bilateral
Trigger: Prolonged fasting
Dystonia
Attacks - face
Attacks at rest
Trigger: Stress
Show more (+6)
n.a.
p.Ala9Val: het
No
C
SRB
0
30
n.a.
Dystonia
Trigger: Caffeine
Attacks at rest
Chorea
Athetosis
Attacks - trunk
Trigger: Sleep deprivation
Aura preceding attacks
Trigger: Prolonged fasting
Attacks – bilateral
Attacks - face
Trigger: Stress
Show more (+9)
n.a.
p.Ala9Val: het
No
C
SRB
0
28
n.a.
Trigger: Caffeine
Dystonia
Attacks - neck
Trigger: Sleep deprivation
Trigger: Stress
Aura preceding attacks
Attacks – bilateral
Trigger: Prolonged fasting
Attacks at rest
Show more (+6)
n.a.
p.Ala9Val: het
No
C
SRB
1
22
n.a.
Athetosis
Trigger: Stress
Attacks - face
Attacks - neck
Attacks – bilateral
Trigger: Caffeine
Aura preceding attacks
Chorea
Attacks at rest
Trigger: Sleep deprivation
Show more (+7)
n.a.
p.Ala9Val: het
No
C
SRB
1
50
n.a.
Attacks at rest
Aura preceding attacks
Athetosis
Trigger: Caffeine
Attacks - face
Chorea
Speech disturbance
Attacks – bilateral
Dystonia
Trigger: Stress
Show more (+7)
n.a.
p.Ala9Val: het