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