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.
Dystonia
Attacks - neck
Attacks at rest
Trigger: Sleep deprivation
Trigger: Stress
Attacks – bilateral
Speech disturbance
Attacks - face
Aura preceding attacks
Athetosis
Ataxia
Chorea
Show more (+9)
n.a.
p.Ala33Pro: het