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