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