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