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.
Ataxia
Attacks - neck
Trigger: Stress
Chorea
Attacks – bilateral
Attacks at rest
Attacks - face
Dystonia
Trigger: Sleep deprivation
Athetosis
Speech disturbance
Aura preceding attacks
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n.a.
p.Ala33Pro: het