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