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