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