Roubertie, 2008: 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.
|
n.a.
|
4
|
5
|
n.a.
|
n.a.
|
||
No
|
♀
|
n.a.
|
n.a.
|
1
|
2
|
n.a.
|
-Gait ataxia (interictal)
Tonic upgaze (ictal) Ataxia (ictal) Ataxia Tonic upgaze Gait ataxia Show more (+3) |
Tonic upgaze
|
|
No
|
♀
|
n.a.
|
n.a.
|
9
|
37
|
n.a.
|
Vertigo
Vomiting (ictal) Nausea (ictal) Ataxia (ictal) Emotional stress trigger Headache Nausea Vertigo (ictal) Ataxia Vomiting Show more (+7) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
10
|
n.a.
|
Vomiting
-Dystonia (ictal) Hyperhidrosis Ataxia Ataxia (ictal) Dystonia (any or unspecified) Vomiting (ictal) Show more (+4) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
44
|
n.a.
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
15
|
n.a.
|
Vertigo (ictal)
Nystagmus Nystagmus (interictal) Vomiting (ictal) Ataxia Tonic upgaze (ictal) Vomiting Vertigo Tonic upgaze Ataxia (ictal) Show more (+7) |
n.a.
|