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