Kipfer, 2013: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♂
C
CHE
5
20
n.a.
Vertigo
Dystonia (any or unspecified)
-Dystonia (ictal)
Decreased level of consciousness
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n.a.
No
♀
C
CHE
n.a.
55
n.a.
Ataxia
Decreased level of consciousness
Ataxia, limb
Slow saccades
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n.a.
Yes
♀
C
CHE
19
22
n.a.
Alcohol trigger
Emotional stress trigger
Ataxia
-Gait ataxia (ictal)
Ataxia (interictal)
Ataxia (ictal)
Migraine
Cerebellar atrophy
Vertigo (ictal)
Vertigo
Gait ataxia
Dysarthria
Dysmetric saccades
Nystagmus
-Limb ataxia (interictal)
Dysarthria (ictal)
Nystagmus (interictal)
Ataxia, limb
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Migraine