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