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