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)
Nausea
Physical stress trigger
Ataxia
Vomiting
Nausea (ictal)
Visual blurring
Seizures
Tremor (any or unspecified)
-Tremor (interictal)
Cerebellar atrophy
Visual blurring (interictal)
Nystagmus
Nystagmus (interictal)
Ataxia (ictal)
Vomiting (ictal)
Show more (+13)
n.a.
p.Arg1819*: het
Yes
n.a.
n.a.
17
51
n.a.
Cerebellar atrophy
Nystagmus (interictal)
Visual blurring (interictal)
Emotional stress trigger
Ataxia
Ataxia (ictal)
Physical stress trigger
-Gait ataxia (interictal)
Alcohol trigger
Ataxia, limb
Visual blurring
Ataxia, limb (ictal)
Nystagmus
Gait ataxia
-Gait ataxia (ictal)
Show more (+12)
n.a.