Marti, 2008: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
48
73
n.a.
Nystagmus
Ataxia
Ataxia, limb
Gait ataxia
Dysarthria
Cerebellar atrophy
Nystagmus (interictal)
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n.a.
Yes
n.a.
n.a.
30
39
n.a.
Nystagmus
Ataxia, limb
Vertigo (ictal)
-Gait ataxia (interictal)
Vertigo
Cerebellar atrophy
-Limb ataxia (interictal)
Ataxia
Gait ataxia
Muscle weakness
Headache
Nystagmus (interictal)
-Gait ataxia (ictal)
Dysarthria
Ataxia (ictal)
Hemiplegia
-Muscle weakness (ictal)
Migraine
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n.a.