Ghezzi, 2009: Overview of all reported PxMD-PNKD patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
Attacks - neck
Attacks – bilateral
Dystonia
Trigger: Stress
Athetosis
Aura preceding attacks
Ataxia
Attacks - face
Trigger: Sleep deprivation
Speech disturbance
Attacks at rest
Chorea
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n.a.
p.Ala33Pro: het