Shimmura, 2017: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
4
34
n.a.
Vertigo (ictal)
Ataxia
Emotional stress trigger
Nausea (ictal)
Nystagmus
-Gait ataxia (interictal)
Seizures
Nausea
-Limb ataxia (interictal)
Gait ataxia
Ophthalmoparesis
Vertigo
Ataxia (ictal)
Ataxia, limb
Heat trigger
Cerebellar atrophy
Show more (+13)
Nausea
Vertigo
p.Gln1674*: het