Blumkin, 2015: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
JO
MAR
1
5
n.a.
Ophthalmoparesis
Gait ataxia
-Limb ataxia (interictal)
Nystagmus (ictal)
Dysarthria
Ataxia (ictal)
Nystagmus
Tonic upgaze (ictal)
Ataxia
Tremor (any or unspecified)
Tonic upgaze
Ataxia, limb
Dystonia (any or unspecified)
Nystagmus (interictal)
-Gait ataxia (ictal)
-Gait ataxia (interictal)
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Gait ataxia
Tonic upgaze
Yes
n.a.
n.a.
n.a.
3
n.a.
Nystagmus (ictal)
Nystagmus (interictal)
Tremor (any or unspecified)
Motor developmental delay
Tonic upgaze (ictal)
Tonic upgaze
Fatigue trigger
Ataxia
Ataxia, limb
Gait ataxia
Nystagmus
Dysarthria
Ophthalmoparesis
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Motor developmental delay
Tonic upgaze