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