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