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