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