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