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