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