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.
|
Ophthalmoparesis
Gait ataxia -Limb ataxia (interictal) Nystagmus (ictal) Dysarthria Ataxia (ictal) Nystagmus Tonic upgaze (ictal) Ataxia Tremor (any or unspecified) Tonic upgaze Ataxia, limb Dystonia (any or unspecified) Nystagmus (interictal) -Gait ataxia (ictal) -Gait ataxia (interictal) Show more (+13) |
Gait ataxia
Tonic upgaze |
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Nystagmus (ictal)
Nystagmus (interictal) Tremor (any or unspecified) Motor developmental delay Tonic upgaze (ictal) Tonic upgaze Fatigue trigger Ataxia Ataxia, limb Gait ataxia Nystagmus Dysarthria Ophthalmoparesis Show more (+10) |
Motor developmental delay
Tonic upgaze |