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.
Cerebellar atrophy
Ataxia, limb
Nystagmus
Ataxia
Gait ataxia
Nystagmus (interictal)
Dysarthria
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n.a.
Yes
n.a.
n.a.
30
39
n.a.
Nystagmus
-Gait ataxia (interictal)
Muscle weakness
-Muscle weakness (ictal)
-Limb ataxia (interictal)
Headache
Vertigo (ictal)
Migraine
Cerebellar atrophy
Gait ataxia
Ataxia (ictal)
Hemiplegia
Dysarthria
Nystagmus (interictal)
Ataxia, limb
Vertigo
-Gait ataxia (ictal)
Ataxia
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n.a.