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