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 Ataxia (ictal) Tonic upgaze Gait ataxia Show more (+3) |
Tonic upgaze
|
|
No
|
♀
|
n.a.
|
n.a.
|
9
|
37
|
n.a.
|
Headache
Emotional stress trigger Vomiting (ictal) Vertigo Nausea (ictal) Vomiting Ataxia (ictal) Nausea Vertigo (ictal) Ataxia Show more (+7) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
10
|
n.a.
|
Ataxia (ictal)
Vomiting Dystonia (any or unspecified) Vomiting (ictal) Hyperhidrosis -Dystonia (ictal) Ataxia 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.
|
Vomiting
Vertigo Tonic upgaze Nystagmus Vomiting (ictal) Ataxia Ataxia (ictal) Nystagmus (interictal) Vertigo (ictal) Tonic upgaze (ictal) Show more (+7) |
n.a.
|