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: Anxiety
Trigger: Caffeine
Aura preceding attacks
Trigger: Sleep deprivation
Trigger: Stress
Attacks – bilateral
Sleep benefit
Chorea
Show more (+5)
n.a.
p.Ala7Val: het
No
A
TWN
5
37
Yes
Sleep benefit
Trigger: Sleep deprivation
Aura preceding attacks
Dystonia
Trigger: Alcohol
Attacks - trunk
Trigger: Exercise
Trigger: Stress
Trigger: Anxiety
Attacks - neck
Attacks – bilateral
Chorea
Trigger: Caffeine
Athetosis
Attacks - face
Show more (+12)
n.a.
p.Ala7Val: het
No
A
TWN
0
4
Yes
Dystonia
Athetosis
Speech disturbance
Attacks - neck
Trigger: Sleep deprivation
Attacks – bilateral
Chorea
Sleep benefit
Aura preceding attacks
Attacks - trunk
Trigger: Stress
Show more (+8)
n.a.
p.Ala7Val: het
Yes
A
TWN
3
38
Yes
Athetosis
Chorea
Trigger: Stress
Dystonia
Sleep benefit
Trigger: Exercise
Aura preceding attacks
Ballism
Trigger: Caffeine
Attacks - face
Speech disturbance
Trigger: Anxiety
Trigger: Sleep deprivation
Attacks – bilateral
Show more (+11)
n.a.
p.Ala7Val: het
No
A
TWN
7
35
Yes
Chorea
Ballism
Trigger: Exercise
Trigger: Sleep deprivation
Sleep benefit
Migraine (any subclass)
Trigger: Stress
Dystonia
Trigger: Anxiety
Trigger: Caffeine
Attacks – bilateral
Show more (+8)
n.a.
p.Ala7Val: het