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