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