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