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
|
Seizures (interictal)
Ataxia Saccadic smooth pursuit Cognitive impairment Cognitive impairment (interictal) Seizures Dystonia (any or unspecified) -Dystonia (interictal) Ataxia (ictal) Ataxia, limb -Limb ataxia (interictal) Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
29
|
32
|
n.a.
|
Dysarthria (interictal)
Ataxia, limb -Gait ataxia (interictal) Diplopia Diplopia (interictal) Cerebellar atrophy Ataxia (ictal) Ataxia Gait ataxia -Limb ataxia (interictal) Dysarthria Show more (+8) |
n.a.
|