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