Bertholon, 2009: 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.
|
2
|
10
|
n.a.
|
-Gait ataxia (ictal)
Ataxia Ophthalmoparesis Muscle weakness Gait ataxia Ataxia (ictal) Muscle weakness (interictal) Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
18
|
34
|
n.a.
|
Nausea
Migraine (interictal) Depression (interictal) Ophthalmoparesis Muscle weakness (interictal) Ataxia, limb (ictal) Ataxia Emotional stress trigger -Limb ataxia (interictal) Vertigo Migraine Physical stress trigger Nausea (ictal) Ataxia (ictal) Gait ataxia Diplopia (ictal) -Gait ataxia (ictal) Nystagmus Diplopia Ataxia, limb Muscle weakness Nystagmus (interictal) Vertigo (interictal) Show more (+20) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
6
|
22
|
n.a.
|
Nystagmus (ictal)
Gait ataxia Physical stress trigger Ataxia (ictal) Migraine Emotional stress trigger Muscle weakness Seizures Seizures (ictal) Dysarthria (ictal) Nystagmus -Gait ataxia (ictal) Ataxia Hyperhidrosis Muscle weakness (interictal) Migraine (ictal) Dysarthria Show more (+14) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
1
|
8
|
n.a.
|
Muscle weakness (interictal)
-Gait ataxia (ictal) Ataxia Nausea (ictal) Ataxia (ictal) Migraine (ictal) Gait ataxia Seizures (ictal) Migraine Muscle weakness Physical stress trigger Nausea Seizures Show more (+10) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
20
|
33
|
n.a.
|
Migraine (interictal)
Nystagmus Migraine -Gait ataxia (ictal) Muscle weakness (interictal) Ataxia (ictal) Depression (interictal) Gait ataxia Pregnancy or hormonal change trigger Nystagmus (interictal) Muscle weakness Physical stress trigger Migraine (ictal) Ataxia Show more (+11) |
n.a.
|