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