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