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