Yeh, 2012: Overview of all reported PxMD-PNKD patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
A
TWN
9
58
Yes
Trigger: Stress
Attacks – bilateral
Aura preceding attacks
Trigger: Anxiety
Trigger: Caffeine
Chorea
Sleep benefit
Trigger: Sleep deprivation
Show more (+5)
n.a.
p.Ala7Val: het
No
A
TWN
5
37
Yes
Trigger: Alcohol
Attacks – bilateral
Trigger: Stress
Aura preceding attacks
Athetosis
Chorea
Trigger: Anxiety
Attacks - trunk
Attacks - face
Sleep benefit
Trigger: Exercise
Dystonia
Trigger: Sleep deprivation
Trigger: Caffeine
Attacks - neck
Show more (+12)
n.a.
p.Ala7Val: het
No
A
TWN
0
4
Yes
Trigger: Sleep deprivation
Athetosis
Trigger: Stress
Attacks - neck
Attacks - trunk
Dystonia
Sleep benefit
Chorea
Speech disturbance
Aura preceding attacks
Attacks – bilateral
Show more (+8)
n.a.
p.Ala7Val: het
Yes
A
TWN
3
38
Yes
Dystonia
Trigger: Exercise
Attacks – bilateral
Chorea
Attacks - face
Sleep benefit
Athetosis
Trigger: Caffeine
Aura preceding attacks
Trigger: Stress
Ballism
Trigger: Anxiety
Trigger: Sleep deprivation
Speech disturbance
Show more (+11)
n.a.
p.Ala7Val: het
No
A
TWN
7
35
Yes
Attacks – bilateral
Ballism
Migraine (any subclass)
Chorea
Trigger: Stress
Trigger: Sleep deprivation
Dystonia
Sleep benefit
Trigger: Anxiety
Trigger: Caffeine
Trigger: Exercise
Show more (+8)
n.a.
p.Ala7Val: het