Blumkin, 2015: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
JO
|
MAR
|
1
|
5
|
n.a.
|
Nystagmus (interictal)
Ophthalmoparesis Nystagmus (ictal) Ataxia, limb -Limb ataxia (interictal) Dysarthria Tonic upgaze Dystonia (any or unspecified) Ataxia (ictal) Nystagmus Ataxia Gait ataxia Tonic upgaze (ictal) -Gait ataxia (interictal) Tremor (any or unspecified) -Gait ataxia (ictal) Show more (+13) |
Tonic upgaze
Gait ataxia |
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Nystagmus (interictal)
Nystagmus Tonic upgaze Motor developmental delay Gait ataxia Dysarthria Ataxia, limb Tremor (any or unspecified) Nystagmus (ictal) Ophthalmoparesis Tonic upgaze (ictal) Ataxia Fatigue trigger Show more (+10) |
Tonic upgaze
Motor developmental delay |