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