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