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