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