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