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