Szczałuba, 2009: Overview of all reported PxMD-PNKD patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
POL
2
5
n.a.
Athetosis
Chorea
Attacks at rest
Aura preceding attacks
Trigger: Stress
Attacks – bilateral
Trigger: Anxiety
Trigger: Exercise
Show more (+5)
n.a.
p.Ala9Val: het
Yes
C
POL
n.a.
8
n.a.
Trigger: Anxiety
Attacks at rest
Attacks – bilateral
Attacks - face
Attacks - neck
Aura preceding attacks
Trigger: Stress
Speech disturbance
Dystonia
Trigger: Exercise
Show more (+7)
n.a.
p.Ala9Val: het
No
C
POL
n.a.
44
n.a.
Attacks - neck
Attacks - face
Attacks – bilateral
Dystonia
Attacks at rest
Show more (+2)
n.a.
p.Ala9Val: het