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