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