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