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