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