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