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