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.
Ophthalmoparesis
Emotional stress trigger
Vertigo (ictal)
Gait ataxia
-Limb ataxia (interictal)
Cerebellar atrophy
-Gait ataxia (interictal)
Nausea
Ataxia (ictal)
Nausea (ictal)
Ataxia, limb
Heat trigger
Ataxia
Vertigo
Nystagmus
Seizures
Show more (+13)
Nausea
Vertigo
p.Gln1674*: het