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