Strupp, 2004: 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.
14
26
No
-Visual blurring (ictal)
-Tremor (interictal)
Vomiting (ictal)
Nausea (ictal)
Vomiting
Nausea
Nystagmus
Seizures
Ataxia (ictal)
Tremor (any or unspecified)
Cerebellar atrophy
Visual blurring
Visual blurring (interictal)
Nystagmus (interictal)
Ataxia
Physical stress trigger
Show more (+13)
n.a.
p.Arg1819*: het
Yes
n.a.
n.a.
17
51
n.a.
Ataxia
Ataxia (ictal)
Ataxia, limb (ictal)
Cerebellar atrophy
Ataxia, limb
-Gait ataxia (interictal)
-Gait ataxia (ictal)
Gait ataxia
Visual blurring
Alcohol trigger
Visual blurring (interictal)
Emotional stress trigger
Nystagmus
Physical stress trigger
Nystagmus (interictal)
Show more (+12)
n.a.