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.
Dystonia (any or unspecified)
-Dystonia (ictal)
Decreased level of consciousness
Vertigo
Show more (+1)
n.a.
No
C
CHE
n.a.
55
n.a.
Ataxia
Decreased level of consciousness
Slow saccades
Ataxia, limb
Show more (+1)
n.a.
Yes
C
CHE
19
22
n.a.
Alcohol trigger
Emotional stress trigger
Vertigo (ictal)
Vertigo
Dysarthria (ictal)
Ataxia, limb
Cerebellar atrophy
Nystagmus
Gait ataxia
Dysmetric saccades
Nystagmus (interictal)
Ataxia (ictal)
Dysarthria
-Limb ataxia (interictal)
Migraine
Ataxia (interictal)
-Gait ataxia (ictal)
Ataxia
Show more (+15)
Migraine