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