Pons, 2012: Overview of all reported PxMD-PNKD patients

Index patientSex Ethnicity Country of originAAO Family history Symptoms Initial symptoms Reported mutations
Non.g.GRCn.g.YesAttacks at rest,
Dystonia,
Speech disturbance
n.g.p.Ala7Val: n.g.
Non.g.GRCn.g.YesAttacks at rest,
Dystonia
n.g.p.Ala7Val: n.g.
Non.g.GRCn.g.YesAttacks - face,
Attacks - neck,
Attacks - trunk,
Attacks at rest,
Bilateral attacks,
Dystonia,
Speech disturbance,
Trigger: Alcohol,
Trigger: Anxiety,
Trigger: Caffeine,
Trigger: Sleep deprivation,
Trigger: Stress

Show more (+9)
n.g.p.Ala7Val: n.g.
Non.g.GRCn.g.YesAttacks at rest,
Dystonia,
Speech disturbance
n.g.p.Ala7Val: n.g.
Yesn.g.GRC0YesAttacks at rest,
Dystonia,
Speech disturbance,
Trigger: Anxiety,
Trigger: Sleep deprivation,
Trigger: Stress

Show more (+3)
n.g.p.Ala7Val: n.g.
Non.g.GRCn.g.YesAttacks at rest,
Dystonia
n.g.p.Ala7Val: n.g.
Non.g.GRCn.g.YesAttacks at rest,
Dystonia,
Trigger: Alcohol
n.g.p.Ala7Val: n.g.
Non.g.GRC2YesAttacks - neck,
Attacks at rest,
Bilateral attacks,
Dystonia

Show more (+1)
n.g.p.Ala7Val: n.g.
Non.g.GRC1YesAttacks - face,
Attacks at rest
n.g.p.Ala7Val: n.g.
Yesn.g.GRC2YesAttacks - face,
Attacks at rest,
Dystonia
n.g.p.Ala7Val: n.g.