Bruno, 2007: Overview of all reported PxMD-PNKD patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
DEU
n.a.
n.a.
Yes
Trigger: Alcohol
Sleep benefit
Chorea
Attacks at rest
Trigger: Caffeine
Trigger: Exercise
Dystonia
Trigger: Stress
Show more (+5)
n.a.
p.Ala7Val: het
No
n.a.
DEU
n.a.
n.a.
Yes
Trigger: Alcohol
Trigger: Stress
Trigger: Exercise
Chorea
Trigger: Sleep deprivation
Dystonia
Trigger: Caffeine
Attacks at rest
Show more (+5)
n.a.
p.Ala9Val: het
No
n.a.
DEU
n.a.
n.a.
Yes
Dystonia
Trigger: Exercise
Chorea
Trigger: Caffeine
Trigger: Stress
Sleep benefit
Trigger: Alcohol
Attacks at rest
Show more (+5)
n.a.
p.Ala7Val: het
No
n.a.
DEU
n.a.
n.a.
Yes
Trigger: Exercise
Chorea
Sleep benefit
Trigger: Stress
Attacks at rest
Dystonia
Trigger: Alcohol
Trigger: Caffeine
Show more (+5)
n.a.
p.Ala7Val: het
No
n.a.
ITA
n.a.
n.a.
Yes
Attacks at rest
Trigger: Sleep deprivation
Chorea
Dystonia
Trigger: Caffeine
Trigger: Alcohol
Trigger: Stress
Show more (+4)
n.a.
p.Ala7Val: het
No
n.a.
DEU
n.a.
n.a.
Yes
Trigger: Caffeine
Attacks at rest
Trigger: Alcohol
Trigger: Exercise
Dystonia
Trigger: Stress
Chorea
Sleep benefit
Show more (+5)
n.a.
p.Ala7Val: het
No
n.a.
DEU
n.a.
n.a.
Yes
Trigger: Exercise
Trigger: Alcohol
Trigger: Caffeine
Trigger: Stress
Chorea
Sleep benefit
Attacks at rest
Dystonia
Show more (+5)
n.a.
p.Ala7Val: het
No
n.a.
POL
n.a.
n.a.
Yes
Attacks at rest
Dystonia
Trigger: Stress
Trigger: Alcohol
Trigger: Caffeine
Show more (+2)
n.a.
p.Ala9Val: het
No
n.a.
ITA
n.a.
n.a.
Yes
Dystonia
Trigger: Sleep deprivation
Chorea
Trigger: Caffeine
Trigger: Alcohol
Attacks at rest
Trigger: Stress
Show more (+4)
n.a.
p.Ala7Val: het
No
n.a.
DEU
n.a.
n.a.
Yes
Sleep benefit
Attacks at rest
Chorea
Trigger: Exercise
Dystonia
Trigger: Caffeine
Trigger: Stress
Trigger: Alcohol
Show more (+5)
n.a.
p.Ala7Val: het