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