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