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