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