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.
Attacks – bilateral
Trigger: Stress
Aura preceding attacks
Trigger: Anxiety
Chorea
Athetosis
Attacks at rest
Trigger: Exercise
Show more (+5)
n.a.
p.Ala9Val: het
Yes
C
POL
n.a.
8
n.a.
Aura preceding attacks
Trigger: Stress
Trigger: Exercise
Attacks at rest
Attacks - neck
Dystonia
Attacks - face
Trigger: Anxiety
Speech disturbance
Attacks – bilateral
Show more (+7)
n.a.
p.Ala9Val: het
No
C
POL
n.a.
44
n.a.
Dystonia
Attacks - face
Attacks at rest
Attacks – bilateral
Attacks - neck
Show more (+2)
n.a.
p.Ala9Val: het