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