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