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

Index patientSex Ethnicity Country of originAAO Family history Symptoms Initial symptoms Reported mutations
Yesn.g.CANn.g.YesAttacks at rest,
Chorea,
Dystonia,
Sleep benefit,
Trigger: Alcohol,
Trigger: Caffeine,
Trigger: Stress

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n.g.p.Ala7Val: n.g.
Non.g.CANn.g.YesAttacks at rest,
Chorea,
Dystonia,
Sleep benefit,
Trigger: Alcohol,
Trigger: Caffeine,
Trigger: Stress

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n.g.p.Ala7Val: n.g.
Yesn.g.RUSn.g.YesAttacks - trunk,
Attacks at rest,
Bilateral attacks,
Chorea,
Dystonia,
Sleep benefit,
Trigger: Alcohol,
Trigger: Caffeine,
Trigger: Exercise,
Trigger: Stress

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n.g.p.Ala7Val: n.g.
Non.g.DEUn.g.YesAttacks at rest,
Chorea,
Dystonia,
Sleep benefit,
Trigger: Alcohol,
Trigger: Caffeine,
Trigger: Exercise,
Trigger: Stress

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n.g.p.Ala7Val: n.g.
Non.g.DEUn.g.YesAttacks at rest,
Chorea,
Dystonia,
Sleep benefit,
Trigger: Alcohol,
Trigger: Caffeine,
Trigger: Exercise,
Trigger: Stress

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n.g.p.Ala7Val: n.g.
Non.g.ITAn.g.YesAttacks at rest,
Chorea,
Dystonia,
Trigger: Alcohol,
Trigger: Caffeine,
Trigger: Sleep deprivation,
Trigger: Stress

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n.g.p.Ala7Val: n.g.
Non.g.ITAn.g.YesAttacks at rest,
Chorea,
Dystonia,
Trigger: Alcohol,
Trigger: Caffeine,
Trigger: Sleep deprivation,
Trigger: Stress

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n.g.p.Ala7Val: n.g.
Yesn.g.ITAn.g.YesAttacks at rest,
Chorea,
Dystonia,
Trigger: Alcohol,
Trigger: Caffeine,
Trigger: Sleep deprivation,
Trigger: Stress

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n.g.p.Ala7Val: n.g.
Non.g.ITAn.g.YesAttacks at rest,
Chorea,
Dystonia,
Trigger: Alcohol,
Trigger: Caffeine,
Trigger: Sleep deprivation,
Trigger: Stress

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n.g.p.Ala7Val: n.g.
Non.g.DEUn.g.YesAttacks at rest,
Chorea,
Dystonia,
Trigger: Alcohol,
Trigger: Caffeine,
Trigger: Exercise,
Trigger: Sleep deprivation,
Trigger: Stress

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n.g.p.Ala9Val: n.g.