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