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