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