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