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