Nachbauer, 2014: 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.
AUT
2
35
n.a.
Physical stress trigger
Nystagmus
Headache
Diplopia (ictal)
Nystagmus (interictal)
Nausea
Nausea (ictal)
Dysarthria
Ataxia (ictal)
Cognitive impairment
Dysarthria (ictal)
Gait ataxia
Vomiting (ictal)
-Gait ataxia (ictal)
-Gait ataxia (interictal)
Vertigo
Vomiting
Ataxia
Emotional stress trigger
Headache (ictal)
Vertigo (ictal)
Dysarthria (interictal)
Diplopia
Show more (+20)
n.a.
No
n.a.
AUT
n.a.
36
n.a.
Headache (ictal)
Gait ataxia
Vertigo (ictal)
Nystagmus (interictal)
Ataxia (ictal)
Physical stress trigger
Ataxia
Cognitive impairment
Nausea
Nausea (ictal)
Caffeine trigger
Nystagmus
-Gait ataxia (ictal)
Emotional stress trigger
Vertigo
Headache
Dysarthria (ictal)
Dysarthria
Show more (+15)
n.a.
No
n.a.
AUT
10
18
n.a.
Dysarthria (ictal)
Nystagmus
Nystagmus (interictal)
Gait ataxia
Nausea (ictal)
Nausea
Vertigo
Cognitive impairment
Headache
-Gait ataxia (ictal)
Headache (ictal)
-Gait ataxia (interictal)
Emotional stress trigger
Ataxia (ictal)
Vertigo (ictal)
Dysarthria
Physical stress trigger
Ataxia
Show more (+15)
n.a.
No
n.a.
AUT
30
85
n.a.
Ataxia (ictal)
Nystagmus (interictal)
Ataxia
-Gait ataxia (ictal)
Gait ataxia
Vertigo (ictal)
Nystagmus
Vertigo
Show more (+5)
n.a.
Yes
n.a.
AUT
45
58
n.a.
Cognitive impairment
Emotional stress trigger
-Gait ataxia (interictal)
Vertigo (ictal)
-Gait ataxia (ictal)
Diplopia
Ataxia, limb (ictal)
Diplopia (ictal)
Ataxia, limb
Dysarthria (interictal)
Vertigo
Nystagmus
Dysarthria
Nystagmus (interictal)
Ataxia (ictal)
Ataxia
Dysarthria (ictal)
Gait ataxia
Show more (+15)
n.a.
No
n.a.
AUT
10
56
n.a.
Vertigo (ictal)
Alcohol trigger
Physical stress trigger
Gait ataxia
Dysarthria
Dysarthria (ictal)
Vertigo
Ataxia (ictal)
Cognitive impairment
Ataxia
-Gait ataxia (ictal)
Show more (+8)
n.a.