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