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