Balck, 2017: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
17
|
No
|
-Dystonia (interictal)
Cognitive impairment (interictal) Seizures (interictal) Seizures Saccadic smooth pursuit -Limb ataxia (interictal) Ataxia Dystonia (any or unspecified) Ataxia (ictal) Ataxia, limb Cognitive impairment Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
29
|
32
|
n.a.
|
Cerebellar atrophy
Ataxia Ataxia (ictal) Ataxia, limb -Gait ataxia (interictal) Diplopia (interictal) Diplopia Gait ataxia Dysarthria -Limb ataxia (interictal) Dysarthria (interictal) Show more (+8) |
n.a.
|