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