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