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.
|