Pons, 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
C
GRC
n.a.
n.a.
Yes
Dystonia
Attacks at rest
Trigger: Alcohol
n.a.
p.Ala7Val: het
No
C
GRC
2
n.a.
Yes
Dystonia
Attacks - neck
Attacks at rest
Attacks – bilateral
Show more (+1)
n.a.
p.Ala7Val: het
No
C
GRC
n.a.
n.a.
Yes
Attacks at rest
Dystonia
Attacks – bilateral
Tremor (any or unspecified)
Show more (+1)
n.a.
p.Ala7Val: het
Yes
C
GRC
2
n.a.
Yes
Attacks - face
Dystonia
Attacks at rest
n.a.
p.Ala7Val: het
No
C
GRC
n.a.
n.a.
Yes
Dystonia
Attacks at rest
n.a.
p.Ala7Val: het
No
C
GRC
1
n.a.
Yes
Attacks - face
Attacks at rest
n.a.
p.Ala7Val: het
No
C
GRC
n.a.
n.a.
Yes
Attacks - face
Attacks – bilateral
Attacks at rest
Trigger: Anxiety
Attacks - neck
Speech disturbance
Trigger: Alcohol
Dystonia
Attacks - trunk
Trigger: Sleep deprivation
Trigger: Stress
Trigger: Caffeine
Show more (+9)
n.a.
p.Ala7Val: het
No
C
GRC
n.a.
n.a.
Yes
Attacks at rest
Dystonia
Speech disturbance
n.a.
p.Ala7Val: het
No
C
GRC
n.a.
n.a.
Yes
Dystonia
Attacks at rest
Speech disturbance
n.a.
p.Ala7Val: het
Yes
C
GRC
0
n.a.
Yes
Trigger: Anxiety
Trigger: Sleep deprivation
Dystonia
Attacks at rest
Speech disturbance
Trigger: Stress
Show more (+3)
n.a.
p.Ala7Val: het